Varaico: Literature-Extracted Genetic Variants

Gene:REEP2
Variant:p.V36E
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REEP2

NM_001271803.2:p.V36E

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG72

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

Nan H et al.

Journal of Human Genetics, 2021

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

De novo REEP2 missense mutation in pure hereditary spastic paraplegia.

Roda RH et al.

Annals of Clinical and Translational Neurology, 2017

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.

Esteves T et al.

American Journal of Human Genetics, 2014

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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."