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Article

Functional characterization of putative novel splicing mutations in the cardiomyopathy-causing genes.

DNA and cell biology - 1 Jul 2015

Millat Gilles, Lafont Estèle, Nony Séverine, Rouvet Isabelle, Bozon Dominique

Abstract excerpt

Molecular diagnosis of cardiomyopathies remains difficult not only because of the large number of causative genes and the high rate of private mutations but also due to the large number of unclassified variants (UVs) found in patients' DNA. This study reports the functional splicing impact of nine novel genomic variations previously identified in unrelated patients with cardiomyopathies. To identify splice...

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Source

Identifiers

PMID: 25849606
DOI: 10.1089/dna.2015.2842

Genes

MYBPC3
TNNT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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