Varaico: Literature-Extracted Genetic Variants

Gene:PIK3CD
Variant:p.V194I
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PIK3CD

NM_005026.5:p.V194I

Associated Papers

Novel mutation of SLC37A4 in a glycogen storage disease type Ib patient with neutropenia, horseshoe kidney, and arteriovenous malformation: a case report.

Meimand SE et al.

Immunologic Research, 2023

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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."