Varaico: Literature-Extracted Genetic Variants

Gene:POMT2
Variant:p.F302Y
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POMT2

NM_013382.7:p.F302Y

Associated Papers

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Di Costanzo S et al.

Human Molecular Genetics, 2014

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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."