(Q36474850)

14 August 2017

'A variant of uncertain significance' and the proliferation of human disease gene databases (English)

1 reference

14 August 2017

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David R Nelson

1

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14 August 2017

1 March 2005

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14 August 2017

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14 August 2017

2

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14 August 2017

1

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14 August 2017

70-74

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https://scigraph.springernature.com/pub.10.1186/1479-7364-2-1-70

14 August 2017

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cites work

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525115

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525115

Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525115

The Pfam protein families database

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525115

Of mice and (wo)men: genotype-phenotype correlations in BRCA1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525115

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525115

Databases and software for the analysis of mutations in the human p53 gene, human hprt gene and both the lacI and lacZ gene in transgenic rodents

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3525115

The IARC TP53 database: new online mutation analysis and recommendations to users

30 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1479-7364-2-1-70

BRCA1 and BRCA2 gene mutation analysis: visit to the Breast Cancer Information Core (BIC)

21 January 2018

1 reference

12 December 2020

HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

1 reference

12 December 2020

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

1 reference

12 December 2020

Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core

1 reference

12 December 2020

Identifiers

DOI

10.1186/1479-7364-2-1-70

1 reference

PMCID

3525115

Dimensions Publication ID

14 August 2017

0 references

1 reference

14 August 2017

1 reference

PMCID

3525115