Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC1
Variant:p.H506Q
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MYBPC1

NM_002465.4:p.H506Q

Associated Papers

MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.

Ha K et al.

Human Molecular Genetics, 2013

Search for low penetrance alleles for colorectal cancer through a scan of 1467 non-synonymous SNPs in 2575 cases and 2707 controls with validation by kin-cohort analysis of 14 704 first-degree relatives.

Webb EL et al.

Human Molecular Genetics, 2006

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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."