Varaico: Literature-Extracted Genetic Variants

Gene:MYH6
Variant:p.K1326_A1327Splc
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MYH6

NM_002471.4:p.K1326_A1327Splc

Associated Papers

A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.

Lin X et al.

Frontiers in Pediatrics, 2024

38832002 (PubMed )
Supplement: Table1.xlsx › filter_variants

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Yang Q et al.

Journal of the American Heart Association, 2022

Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.

Yoneda ZT et al.

Jama Cardiology, 2021

34495297 (PubMed )
Supplement: jamacardiol-e213370-s001.pdf

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Jin SC et al.

Nature Genetics, 2017

Whole exome sequencing identified a pathogenic mutation in RYR2 in a Chinese family with unexplained sudden death.

Lin Y et al.

Journal of Electrocardiology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."