Varaico: Literature-Extracted Genetic Variants

Gene:VEPH1
Variant:p.Q433H
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VEPH1

NM_001167912.2:p.Q433H

Associated Papers

Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family.

Mao F et al.

Human Mutation, 2015

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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."