Varaico: Literature-Extracted Genetic Variants

Gene:REEP2
Variant:p.M1T
Back to variants list

REEP2

NM_001271803.2:p.M1T

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

De novo REEP2 missense mutation in pure hereditary spastic paraplegia.

Roda RH et al.

Annals of Clinical and Translational Neurology, 2017

Membrane-shaping disorders: a common pathway in axon degeneration.

Hübner CA et al.

Brain : a Journal of Neurology, 2014

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Novarino G et al.

Science (new York, N.y.), 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."