Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants (Q37661875)

21 August 2017

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants (English)

1 reference

21 August 2017

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24285302%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Paul Flicek

8

1 reference

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9 June 2020

Fiona Cunningham

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24285302%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Jacqueline MacArthur

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24285302%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Joannella Morales

2

1 reference

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9 June 2020

Laurent Gil

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24285302%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Pontus Larsson

7

1 reference

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9 June 2020

Raymond Dalgleish

9

1 reference

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9 June 2020

10

Donna R Maglott

1 reference

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9 June 2020

4

Alex Astashyn

1 reference

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9 June 2020

author name string

Ray E Tully

3

1 reference

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9 June 2020

language of work or name

English

0 references

publication date

26 November 2013

1 reference

21 August 2017

Nucleic Acids Research

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24285302%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

42

1 reference

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9 June 2020

issue

Database issue

1 reference

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9 June 2020

page(s)

D873-8

1 reference

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Creative Commons Attribution 3.0 Unported

9 June 2020

copyright license

start time

4 October 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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23 August 2017

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DbVar and DGVa: public archives for genomic structural variation

23 August 2017

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23 August 2017

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23 August 2017

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Paralogous annotation of disease-causing variants in long QT syndrome genes

23 August 2017

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23 August 2017

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23 August 2017

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Alternative ferritin mRNA translation via internal initiation

23 August 2017

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NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy

23 August 2017

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LOVD v.2.0: the next generation in gene variant databases

23 August 2017

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23 August 2017

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How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

23 August 2017

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Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

23 August 2017

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Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

23 August 2017

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Fast and efficient searching of biological data resources--using EB-eye

23 August 2017

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The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

23 August 2017

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p53 and little brother p53/47: linking IRES activities with protein functions

23 August 2017

1 reference

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Evaluating DNA sequence variants of unknown biological significance.

23 August 2017

1 reference

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

23 August 2017

1 reference

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Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

23 August 2017

1 reference

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CCAAT/enhancer-binding protein mRNA is translated into multiple proteins with different transcription activation potentials

23 August 2017

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Guidelines for establishing locus specific databases.

23 August 2017

1 reference

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EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

6 September 2017

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Curating gene variant databases (LSDBs): toward a universal standard

14 September 2017

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2 October 2018

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3 December 2018

Identifiers

DOI

10.1093/NAR/GKT1198

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24285302%20AND%20SRC:MED&resulttype=core&format=json

journals/nar/MacArthurMTAGBLFDMC14

9 June 2020

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24285302%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24285302%20AND%20SRC:MED&resulttype=core&format=json