Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA7
Variant:p.R428W
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PLEKHA7

NM_001329630.2:p.R428W

Associated Papers

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.

Szot JO et al.

Human Mutation, 2021

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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."