Varaico: Literature-Extracted Genetic Variants

Gene:POMT1
Variant:p.V428D
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POMT1

NM_007171.4:p.V428D

Associated Papers

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

Bello L et al.

European Journal of Human Genetics : Ejhg, 2012

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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."