Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.A848V
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MYBPC3

NM_000256.3:p.A848V

Associated Papers

Germline mutational landscape in a large cohort of Indian breast cancer.

Peter J et al.

Bmc Cancer, 2025

41327099 (PubMed )
Supplement: 12885_2025_15360_MOESM5_ESM.xlsx › Sheet1

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

Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort.

Tomar S et al.

Circulation. Genomic and Precision Medicine, 2022

Autism spectrum disorder in a boy with congenital insensitivity to pain with anhidrosis: a case report.

Zhang M et al.

Bmc Pediatrics, 2022

Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.

Pua CJ et al.

Circulation. Genomic and Precision Medicine, 2020

32815737 (PubMed )
Supplement: hcg-13-424-s001.pdf

Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy.

Meyer T et al.

Gene, 2013

Gene symbol: MYBPC3. Disease: Cardiomyopathy, hypertrophic.

Ruppert V et al.

Human Genetics, 2008

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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."