Varaico: Literature-Extracted Genetic Variants

Gene:PXMP2
Variant:p.A39fs
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PXMP2

NM_018663.3:p.A39fs

Associated Papers

Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.

Kiselev A et al.

Frontiers in Genetics, 2019

31297131 (PubMed )
Supplement: Table_2.xlsx › ____1
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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."