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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:XPOT

Variant:p.V139A

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XPOT

NM_007235.6:p.V139A

hg38:chr12:64419021 T>C

Associated Papers

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis.

Wu CH et al.

Nature, 2012

22801503 (PubMed )

Supplement: NIHMS382266-supplement-1.pdf

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