Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.C375R
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ATL1

NM_015915.5:p.C375R

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG3

In vivo Analysis of CRISPR/Cas9 Induced Atlastin Pathological Mutations in Drosophila.

Montagna A et al.

Frontiers in Neuroscience, 2020

Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature.

Xiao XW et al.

World Journal of Clinical Cases, 2019

Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.

Zhao GH et al.

Translational Neurodegeneration, 2017

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.

Dufke C et al.

Neurogenetics, 2012

Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.

Smith BN et al.

Clinical Genetics, 2009

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

Namekawa M et al.

Neurology, 2006

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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."