Varaico: Literature-Extracted Genetic Variants

Gene:WASHC5
Variant:p.R1035H
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WASHC5

NM_014846.4:p.R1035H

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG8

Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient.

Gao SY et al.

Frontiers in Genetics, 2023

38028608 (PubMed )
Supplement: DataSheet1.XLSX › Sheet1

Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic.

Bogdanova-Mihaylova P et al.

Cerebellum (london, England), 2021

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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."