Varaico: Literature-Extracted Genetic Variants

Gene:POMGNT1
Variant:p.S418_Y420del3
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POMGNT1

NM_017739.4:p.S418_Y420del3

Associated Papers

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

Wallace SE et al.

Neuromuscular Disorders : Nmd, 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."