Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.G471_V472Splc
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SPAST

NM_014946.4:p.G471_V472Splc

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG4

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Schlüter A et al.

Genome Medicine, 2023

37679823 (PubMed )
Supplement: 13073_2023_1214_MOESM1_ESM.pdf

Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia.

Shi Y et al.

Frontiers in Neurology, 2022

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.

Martinuzzi A et al.

Plos One, 2016

27077743 (PubMed )
Supplement: pone.0153283.s002.pdf

Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.

Luo Y et al.

Neuro-degenerative Diseases, 2014

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

Patrono C et al.

Human Mutation, 2005

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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."