Varaico: Literature-Extracted Genetic Variants

Gene:ALS2
Variant:p.H102R
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ALS2

NM_020919.4:p.H102R

Associated Papers

Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.

AlBanji MH et al.

Molecular Genetics and Metabolism Reports, 2020

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."