Varaico: Literature-Extracted Genetic Variants

Gene:ALS2
Variant:p.C123Y
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ALS2

NM_020919.4:p.C123Y

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

A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.

Mahungu AC et al.

Orphanet Journal of Rare Diseases, 2022

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.

Elsayed LEO et al.

European Journal of Human Genetics : Ejhg, 2016

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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."