Varaico: Literature-Extracted Genetic Variants

Gene:ARPP21
Variant:p.P563L
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ARPP21

NM_001385562.1:p.P563L

Associated Papers

Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis.

Dols-Icardo O et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2025

Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis.

Chan Moi Fat S et al.

Neurobiology of Aging, 2021

Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis.

Cooper-Knock J et al.

Cell Reports, 2019

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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."