Varaico: Literature-Extracted Genetic Variants

Gene:POMK
Variant:p.D204A
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POMK

NM_032237.5:p.D204A

Associated Papers

POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan.

Walimbe AS et al.

Elife, 2020

Structure of protein O-mannose kinase reveals a unique active site architecture.

Zhu Q et al.

Elife, 2016

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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."