Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.V36delFs
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REEP1

NM_001371279.1:p.V36delFs

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG31

Screening for REEP1 Mutations in 31 Chinese Hereditary Spastic Paraplegia Families.

Ma X et al.

Frontiers in Neurology, 2020

Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation.

Lavie J et al.

Human Molecular Genetics, 2017

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

Goizet C et al.

Human Mutation, 2011

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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."