Varaico: Literature-Extracted Genetic Variants

Gene:ALS2
Variant:p.Y1607fs
Back to variants list

ALS2

NM_020919.4:p.Y1607fs

Associated Papers

Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum.

Colona VL et al.

American Journal of Medical Genetics. Part A, 2025

Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.

Ikeda A et al.

Frontiers in Neurology, 2023

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."