Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.P342Q
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ATL1

NM_015915.5:p.P342Q

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

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.

Mao B et al.

Bmc Musculoskeletal Disorders, 2025

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

Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.

Zhu PP et al.

Human Molecular Genetics, 2014

A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1.

Fischer D et al.

Brain : a Journal of Neurology, 2014

ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes.

de Bot ST et al.

Journal of Neurology, 2013

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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."