Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.E502insFs
Back to variants list

ATL1

NM_015915.5:p.E502insFs

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

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

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.

Loureiro JL et al.

Acta Neurologica Scandinavica, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."