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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OPTN

Variant:p.V299A

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OPTN

NM_001008212.2:p.V299A

hg38:chr10:13124008 T>C

Associated Papers

Genetic and clinical analysis of OPTN in amyotrophic lateral sclerosis.

Xiao Y et al.

Journal of Medical Genetics, 2025

39779313 (PubMed )

Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.

Chen YP et al.

Journal of Medical Genetics, 2022

34544842 (PubMed )

Supplement: jmedgenet-2021-107965supp002.pdf

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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."