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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRNP

Variant:p.V121delFs

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PRNP

NM_000311.5:p.V121delFs

hg38:chr20:4699580 AG>A

Associated Papers

Progranulin null mutations in both sporadic and familial frontotemporal dementia.

Le Ber I et al.

Human Mutation, 2007

17436289 (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."