Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.D587N
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MYBPC3

NM_000256.3:p.D587N

Associated Papers

Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.

Wang J et al.

Precision Clinical Medicine, 2025

40860236 (PubMed )
Supplement: pbaf019_supplemental_files.zip › Supplemental_Tables.pdf

Somatic NAP1L1 p.D349E promotes cardiac hypertrophy through cGAS-STING-IFN signaling.

Lv C et al.

Nature Communications, 2025

40169585 (PubMed )
Supplement: 41467_2025_58453_MOESM4_ESM.xlsx › Sheet1

Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.

Leong IUS et al.

Medical Sciences (basel, Switzerland), 2017

29099038 (PubMed )
Supplement: medsci-05-00022-s001.zip › Supplementary_data_1.pdf

Sudden Arrhythmic Death During Exercise: A Post-Mortem Genetic Analysis.

Campuzano O et al.

Sports Medicine (auckland, N.z.), 2017

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › UH11T1

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

Andreasen C et al.

European Journal of Human Genetics : Ejhg, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."