(Q33865762)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

title

Locus Reference Genomic sequences: an improved basis for describing human DNA variants (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

2

1 reference

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31 January 2020

Fiona Cunningham

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

William M McLaren

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Ewan Birney

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Raymond Dalgleish

1

1 reference

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31 January 2020

Pontus Larsson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Brendan Vaughan

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Christophe Beroud

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Heikki Lehväslaiho

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Peter E Taschner

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

author name string

Alex Astashyn

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Raymond E Tully

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Glenn Proctor

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Yuan Chen

7

1 reference

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31 January 2020

Glen Dobson

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Johan T den Dunnen

15

1 reference

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31 January 2020

Andrew Devereau

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Anthony J Brookes

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Donna R Maglott

19

1 reference

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31 January 2020

publication date

15 April 2010

1 reference

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31 January 2020

1 reference

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31 January 2020

volume

2

1 reference

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31 January 2020

page(s)

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/gm145

31 January 2020

exact match

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

Hemoglobin research and the origins of molecular medicine.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

NCBI Reference Sequences: current status, policy and new initiatives

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

Standard mutation nomenclature in molecular diagnostics: practical and educational challenges

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

Identification and characterization of six new alternatively spliced variants of the human mu opioid receptor gene, Oprm

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

INK4a/ARF: a multifunctional tumor suppressor locus.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

dbSNP: the NCBI database of genetic variation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

Cystic fibrosis: genotypic and phenotypic variations.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

Alternative RNA processing events in human calcitonin/calcitonin gene-related peptide gene expression.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

Molecular biology of the human fibrillar collagen genes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

Clinical laboratory reports in molecular pathology.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

UMD (Universal Mutation Database): 2005 update.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

Standardizing mutation nomenclature: why bother?

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

MUTbase: maintenance and analysis of distributed mutation databases.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

The designation of mutations.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2873802

29 October 2018

Identifiers

DOI

10.1186/GM145

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

31 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20398331%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

1 reference