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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYBPC1

Variant:p.K249K

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MYBPC1

NM_002465.4:p.K249K

hg38:chr12:101642500 G>A

Associated Papers

Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor.

Geist Hauserman J et al.

Jci Insight, 2021

34437302 (PubMed )

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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."