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Article

Genotype-phenotype associations in sarcomeric hypertrophic cardiomyopathy associated with mutations in the MYBPC3 gene: Systematic review and meta-analysis.

Journal of cardiology - 1 Mar 2026

Nogueira-Garcia Beatriz, Pinheiro Daniela, Gregório Catarina, Caldeira Daniel, Pinto Fausto J, Brito Dulce

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is caused by mutations in sarcomere-related genes, with MYBPC3 being the most common. Documenting potential genotype-phenotype associations may allow for more personalized genetic counselling. METHODS AND RESULTS: Observational case-control, cohort, and cross-sectional studies reporting genotype-phenotype associations and the occurrence of predefined events were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41407035
DOI: 10.1016/j.jjcc.2025.12.007

Genes

MYBPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Genotype-phenotype associations in sarcomeric hypertrophic cardiomyopathy associated with mutations in the MYBPC3 gene: Systematic review and meta-analysis.PMID 41407035Read ↗

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