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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MYBPC2

Variant:p.A248T

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MYBPC2

NM_004533.4:p.A248T

hg38:chr19:50441049 G>A

Associated Papers

Congenital Myopathy Due to Pathogenic Missense Variant in the MYBPC1 Gene.

Bhandari V et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024

37577974 (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."