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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PFN2

Variant:p.E117G

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PFN2

NM_053024.4:p.E117G

hg38:chr3:149966562 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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