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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PFN1

Variant:p.Y129N

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PFN1

NM_005022.4:p.Y129N

hg38:chr17:4945938 A>T

Associated Papers

Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.

Gilley J et al.

Elife, 2021

34796871 (PubMed )

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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."