Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.P344S
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ATL1

NM_015915.5:p.P344S

Associated Papers

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

Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutation.

Fusco C et al.

Journal of Child Neurology, 2012

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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."