Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.V36D
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REEP1

NM_001371279.1:p.V36D

Associated Papers

A Nepalese family with an REEP2 mutation: clinical and genetic study.

Nan H et al.

Journal of Human Genetics, 2021

De novo REEP2 missense mutation in pure hereditary spastic paraplegia.

Roda RH et al.

Annals of Clinical and Translational Neurology, 2017

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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."