Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.I507insFs
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ATL1

NM_015915.5:p.I507insFs

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

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

Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A.

Abel A et al.

Neurogenetics, 2004

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.

Sauter SM et al.

Human Mutation, 2004

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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."