Varaico: Literature-Extracted Genetic Variants

Gene:PI3
Variant:p.K54insFs
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PI3

NM_002638.4:p.K54insFs

Associated Papers

Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.

Kawazoe T et al.

Bmc Neurology, 2018

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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."