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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIK3R1

Variant:p.Q552fs

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PIK3R1

NM_181523.3:p.Q552fs

hg38:chr5:68295233 C>CN

Associated Papers

Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle.

Hayani K et al.

Acta Dermato-venereologica, 2020

32725253 (PubMed )

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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."