Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. (Q37424109)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27532257%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples (English)

1 reference

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21 March 2020

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Hugh Christian Watkins

16

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21 March 2020

Roddy Walsh

1

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21 March 2020

Kate Thomson

2

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21 March 2020

James Ware

3

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21 March 2020

Birgit H Funke

4

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21 March 2020

Francesco Mazzarotto

7

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21 March 2020

Jenny Taylor

10

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21 March 2020

Martin Farrall

14

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21 March 2020

author name string

Jessica Woodley

5

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21 March 2020

Karen J McGuire

6

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21 March 2020

Edward Blair

8

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21 March 2020

Anneke Seller

9

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21 March 2020

Exome Aggregation Consortium

12

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21 March 2020

Daniel G MacArthur

13

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21 March 2020

Stuart A Cook

15

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21 March 2020

Eric V Minikel

11

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21 March 2020

language of work or name

English

0 references

publication date

17 August 2016

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21 March 2020

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21 March 2020

volume

19

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21 March 2020

page(s)

192-203

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21 March 2020

issue

2

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https://scigraph.springernature.com/pub.10.1038/gim.2016.90

21 March 2020

exact match

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cites work

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PubMed

https://pubmed.ncbi.nlm.nih.gov/27532257

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12 December 2020

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Myotonic dystrophy: time for evidence-based therapy

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FGIM.2016.90

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7 January 2021

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Identifiers

DOI

10.1038/GIM.2016.90

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21 March 2020

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21 March 2020

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