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Article

Investigation of mutation spectrum amongst patients with familial primary cardiomyopathy using targeted NGS in Indian population.

Journal of applied genetics - 1 Dec 2024

Krishnaswamy Saroja Mysore, Arunachal Gautham, Singh Kumar Gautam, Thomson Viji Samuel, George Paul, Rao Sudha, Danda Sumita

Abstract excerpt

Genetic cardiomyopathies (CM) are disorders that affect morphology and function of cardiac muscle. Significant number of genes have been implicated in causing the phenotype. It is one of the leading genetic causes of death in young. We performed a study to understand the genetic variants in primary cardiomyopathies in an Indian cohort. Study comprised of 22 probands (13 with family history) representing...

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PMID: 38551768
DOI: 10.1007/s13353-024-00855-2

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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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