Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.

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Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

Application of Multigene Panel ...... ed in KCNQ1, KCNH2, and SCN5A.

@en

Application of Multigene Panel ...... ed in KCNQ1, KCNH2, and SCN5A.

@nl

type

Item

label

Application of Multigene Panel ...... ed in KCNQ1, KCNH2, and SCN5A.

@en

Application of Multigene Panel ...... ed in KCNQ1, KCNH2, and SCN5A.

@nl

prefLabel

Application of Multigene Panel ...... ed in KCNQ1, KCNH2, and SCN5A.

@en

Application of Multigene Panel ...... ed in KCNQ1, KCNH2, and SCN5A.

@nl

P1476

Application of Multigene Panel ...... ed in KCNQ1, KCNH2, and SCN5A.

@en

P2093

Eun Jung Bae

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Hyunwoong Park

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Jee Soo Lee

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Jong Moon Choi

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Kyung Jin Ahn

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Man Jin Kim

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Mi Kyoung Song

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Moon Woo Seong

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Seungjun Lee

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So Yeon Kim

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P2860

Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes

Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.

A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5.

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

The genetics underlying acquired long QT syndrome: impact for genetic screening

Genotype- and phenotype-guided management of congenital long QT syndrome.

P304

54-58

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P31

scholarly article

P356

10.3343/ALM.2018.38.1.54

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P433

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P478

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P577

2018-01-01T00:00:00Z

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P698

29071820

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P932

5700148

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