Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.R160delFs
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REEP1

NM_001371279.1:p.R160delFs

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

Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia.

Xing F et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec.

Haj Salem I et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2021

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."