Varaico: Literature-Extracted Genetic Variants

Gene:POMT1
Variant:p.H415fs
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POMT1

NM_007171.4:p.H415fs

Associated Papers

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.

Hu P et al.

Journal of Cellular and Molecular Medicine, 2017

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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."