(Q35616603)

English

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

scientific article published on 8 December 2006

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scholarly article

1 reference

Europe PubMed Central

9 August 2017

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation (English)

1 reference

Europe PubMed Central

9 August 2017

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based on heuristic

inferred from title

7

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object named as

Lazaro C

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9 August 2017

author name string

Upadhyaya M

1

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9 August 2017

Huson SM

2

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Europe PubMed Central

9 August 2017

Davies M

3

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Europe PubMed Central

9 August 2017

Thomas N

4

1 reference

Europe PubMed Central

9 August 2017

Chuzhanova N

5

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9 August 2017

Giovannini S

6

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9 August 2017

Howard E

8

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Europe PubMed Central

9 August 2017

Kerr B

9

1 reference

Europe PubMed Central

9 August 2017

Griffiths S

10

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Consoli C

11

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Side L

12

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Europe PubMed Central

9 August 2017

Adams D

13

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Pierpont M

14

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9 August 2017

Hachen R

15

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Barnicoat A

16

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Li H

17

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Wallace P

18

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Van Biervliet JP

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Stevenson D

20

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Viskochil D

21

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Baralle D

22

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Haan E

23

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Riccardi V

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Turnpenny P

25

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Messiaen L

27

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language of work or name

0 references

publication date

8 December 2006

1 reference

Europe PubMed Central

9 August 2017

American Journal of Human Genetics

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Europe PubMed Central

9 August 2017

80

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1

1 reference

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9 August 2017

140-151

1 reference

Europe PubMed Central

9 August 2017

The laminopathies: the functional architecture of the nucleus and its contribution to disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Nuclear lamins, diseases and aging

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Stops along the RAS pathway in human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Childhood overgrowth in patients with common NF1 microdeletions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Recent advances in neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Elevated risk for MPNST in NF1 microdeletion patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Neurofibromas in NF1: Schwann cell origin and role of tumor environment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

NF1 tumor suppressor gene function: narrowing the GAP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Growth in North American white children with neurofibromatosis 1 (NF1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

On the complexity measures of genetic sequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

NF1 gene and neurofibromatosis 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Plexiform neurofibromas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Two independent mutations in a family with neurofibromatosis type 1 (NF1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children's Hospital

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Do NF1 gene deletions result in a characteristic phenotype?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Thoracic tumors in children with neurofibromatosis-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Improved splice site detection in Genie

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Hereditary spinal neurofibromatosis: a rare form of NF1?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Crystal structure of the GTPase-activating domain of human p120GAP and implications for the interaction with Ras

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Familial café au lait spots: a variant of neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Phosphorylation of neurofibromatosis type 1 gene product (neurofibromin) by cAMP-dependent protein kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Deletion of the entire NF1 gene detected by the FISH: four deletion patients associated with severe manifestations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Model for the participation of quasi-palindromic DNA sequences in frameshift mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Analysis of mutations at the neurofibromatosis 1 (NF1) locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

12 July 2018

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

A novel bipartite phospholipid-binding module in the neurofibromatosis type 1 protein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Evaluation of genotype-phenotype correlations in neurofibromatosis type 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Different mutations in the NF1 gene are associated with Neurofibromatosis–Noonan syndrome (NFNS)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Familial spinal neurofibromatosis: Clinical and DNA linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

25 September 2018

Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

15 November 2018

ConstitutionalNF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

15 November 2018

Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785321

15 November 2018

Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurofibromatosis-Noonan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CT imaging in adults with neurofibromatosis-1: frequent asymptomatic plexiform lesions

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spinal tumours in neurofibromatosis type 1: an MRI study of frequency, multiplicity and variety

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombination hotspot in NF1 microdeletion patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160901

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

9 August 2017

1 reference

Europe PubMed Central

9 August 2017

1 reference

Europe PubMed Central

9 August 2017

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