Varaico: Literature-Extracted Genetic Variants

Gene:ALS2
Variant:p.V1189fs
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ALS2

NM_020919.4:p.V1189fs

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-Related Motor Neuron Diseases: From Symptoms to Molecules.

Miceli M et al.

Biology, 2022

35053075 (PubMed )
Supplement: biology-11-00077-s001.zip › supplementary.pdf
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