Varaico: Literature-Extracted Genetic Variants

Gene:POMT2
Variant:p.Q372fs
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POMT2

NM_013382.7:p.Q372fs

Associated Papers

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

Willer T et al.

Nature Genetics, 2012

22522420 (PubMed )
Supplement: NIHMS365606-supplement-1.pdf
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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."