Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.N1023fs
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MYBPC3

NM_000256.3:p.N1023fs

Associated Papers

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.

García Hernandez S et al.

Circulation, 2025

40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Mademont-Soler I et al.

Plos One, 2017

Usefulness of genetic diagnosis in a woman with hypertrophic cardiomyopathy and the desire for motherhood: information is key.

Barriales-Villa R et al.

Revista Espanola De Cardiologia (english Ed.), 2014

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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."