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Article

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Heart (British Cardiac Society) - 1 Feb 2015

Lopes Luis R, Syrris Petros, Guttmann Oliver P, O'Mahony Constantinos, Tang Hak Chiaw, Dalageorgou Chrysoula, Jenkins Sharon, Hubank Mike, Monserrat Lorenzo, McKenna William J, Plagnol Vincent, Elliott Perry M

Abstract excerpt

OBJECTIVE: A predictable relation between genotype and disease expression is needed in order to use genetic testing for clinical decision-making in hypertrophic cardiomyopathy (HCM). The primary aims of this study were to examine the phenotypes associated with sarcomere protein (SP) gene mutations and test the hypothesis that variation in non-sarcomere genes modifies the phenotype. METHODS: Unrelated and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25351510
DOI: 10.1136/heartjnl-2014-306387
PMCID: PMC4345808

Genes

ANK2

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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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