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Article

Identification of SCN5a p.C335R Variant in a Large Family with Dilated Cardiomyopathy and Conduction Disease.

International journal of molecular sciences - 30 Nov 2021

Sedaghat-Hamedani Farbod, Rebs Sabine, El-Battrawy Ibrahim, Chasan Safak, Krause Tobias, Haas Jan, Zhong Rujia, Liao Zhenxing, Xu Qiang, Zhou Xiaobo, Akin Ibrahim, Zitron Edgar, Frey Norbert, Streckfuss-Bömeke Katrin, Kayvanpour Elham

Abstract excerpt

INTRODUCTION: Familial dilated cardiomyopathy (DCM) is clinically variable and has been associated with mutations in more than 50 genes. Rapid improvements in DNA sequencing have led to the identification of diverse rare variants with unknown significance (VUS), which underlines the importance of functional analyses. In this study, by investigating human-induced pluripotent stem cell-derived cardiomyocytes...

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Identifiers

PMID: 34884792
DOI: 10.3390/ijms222312990
PMCID: PMC8657717

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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