Varaico: Literature-Extracted Genetic Variants

Gene:POMT2
Variant:p.A292P
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POMT2

NM_013382.7:p.A292P

Associated Papers

Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.

Song D et al.

Clinical Genetics, 2021

Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy.

Chen XY et al.

Frontiers in Genetics, 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."