Varaico: Literature-Extracted Genetic Variants

Gene:POMK
Variant:p.F96delFs
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POMK

NM_032237.5:p.F96delFs

Associated Papers

Further evidence for POMK as candidate gene for WWS with meningoencephalocele.

Paul L et al.

Orphanet Journal of Rare Diseases, 2020

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."