Varaico: Literature-Extracted Genetic Variants

Gene:ALS2
Variant:p.A46fs
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ALS2

NM_020919.4:p.A46fs

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

ALS2/alsin knockout mice and motor neuron diseases.

Cai H et al.

Neuro-degenerative Diseases, 2008

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.

Yang Y et al.

Nature Genetics, 2001

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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."