Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC1
Variant:p.G576R
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MYBPC1

NM_002465.4:p.G576R

Associated Papers

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.

Niño MY et al.

European Journal of Human Genetics : Ejhg, 2021

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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."