Varaico: Literature-Extracted Genetic Variants

Gene:PIGK
Variant:p.L20_H29delFs
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PIGK

NM_005482.3:p.L20_H29delFs

Associated Papers

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.

Kölbel H et al.

Genes, 2022

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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."