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Article

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

Journal of medical genetics - 1 Sept 2013

Mook Olaf R F, Haagmans Martin A, Soucy Jean-François, van de Meerakker Judith B A, Baas Frank, Jakobs Marja E, Hofman Nynke, Christiaans Imke, Lekanne Deprez Ronald H, Mannens Marcel M A M

Abstract excerpt

BACKGROUND: Genetic evaluation of cardiomyopathies poses a challenge. Multiple genes are involved but no clear genotype-phenotype correlations have been found so far. In the past, genetic evaluation for hypertrophic (HCM) and dilated (DCM) cardiomyopathies was performed by sequential screening of a very limited number of genes. Recent developments in sequencing have increased the throughput, enabling simultaneous...

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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: 23785128
DOI: 10.1136/jmedgenet-2012-101231
PMCID: PMC3756457

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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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