Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.A20delFs
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REEP1

NM_001371279.1:p.A20delFs

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

A complete overview of REEP1: old and new insights on its role in hereditary spastic paraplegia and neurodegeneration.

Guglielmi A

Reviews in the Neurosciences, 2020

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

Ma X et al.

Frontiers in Neurology, 2020

32655478 (PubMed )
Supplement: Data_Sheet_1.docx

Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

Schlang KJ et al.

Bmc Medical Genetics, 2008

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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."