Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.I49S
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MYBPC3

NM_000256.3:p.I49S

Associated Papers

Cardiomyopathy in children: a single-centre, retrospective study of genetic and clinical characteristics.

Sun Q et al.

Bmj Paediatrics Open, 2024

38823802 (PubMed )
Supplement: bmjpo-2023-002024.draft_revisions.pdf

[Clinical and genetic analysis of eight children with Primary hypertrophic cardiomyopathy].

Sun Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.

Liu X et al.

Scientific Reports, 2015

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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."