Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.S398F
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ATL1

NM_015915.5:p.S398F

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

Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.

Hamamie-Chaar A et al.

Journal of Neurology, 2024

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

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

Guelly C et al.

American Journal of Human Genetics, 2011

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.

Fusco C et al.

Brain & Development, 2010

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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."