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Article

Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype.

Genetics research - 13 May 2016

Reinstein Eyal, Tzur Shay, Bormans Concetta, Behar Doron M

Abstract excerpt

Whole-exome sequencing for clinical applications is now an integral part of medical genetics practice. Though most studies are performed in order to establish diagnoses in individuals with rare and clinically unrecognizable disorders, due to the constantly decreasing costs and commercial availability, whole-exome sequencing has gradually become the initial tool to study patients with clinically recognized...

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Source

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Identifiers

PMID: 27173948
DOI: 10.1017/S0016672316000045
PMCID: PMC6865166

Genes

CASK
MYBPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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