Re-evaluating pathogenicity of variants associated with the long QT syndrome.

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Sequencing of uncertain significance.

P2860

Q48335505-824F26FC-04A9-45E7-8119-95DBB13CC57B

P2860

Re-evaluating pathogenicity of variants associated with the long QT syndrome.

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http://www.wikidata.org/entity/Q47681477

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

@zh-cn

2017年学术文章

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2017年學術文章

@yue

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2017年學術文章

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name

Re-evaluating pathogenicity of variants associated with the long QT syndrome.

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Re-evaluating pathogenicity of variants associated with the long QT syndrome.

@nl

type

Item

label

Re-evaluating pathogenicity of variants associated with the long QT syndrome.

@en

Re-evaluating pathogenicity of variants associated with the long QT syndrome.

@nl

prefLabel

Re-evaluating pathogenicity of variants associated with the long QT syndrome.

@en

Re-evaluating pathogenicity of variants associated with the long QT syndrome.

@nl

P1476

Re-evaluating pathogenicity of variants associated with the long QT syndrome.

@en

P2093

Frank Evans

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Yi-Ping Fu

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P2860

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome

Genetic Misdiagnoses and the Potential for Health Disparities

Analysis of protein-coding genetic variation in 60,706 humans

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

Long QT and Brugada syndrome gene mutations in New Zealand

Clinical utility gene card for: long-QT syndrome (types 1-13).

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval.

High prevalence of genetic variants previously associated with LQT syndrome in new exome data

P304

98-104

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scholarly article

P356

10.1111/JCE.13355

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P433

http://www.w3.org/2001/XMLSchema#string

P478

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Jonathan R Kaltman

P577

2017-10-08T00:00:00Z

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P698

28988457

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P932

5777879

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Re-evaluating pathogenicity of variants associated with the long QT syndrome.

about

P2860

P2860

Re-evaluating pathogenicity of variants associated with the long QT syndrome.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932