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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRH1

Variant:p.A16V

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PRH1

NM_001393989.1:p.A16V

hg38:chr12:10884171 G>A

Associated Papers

APECED-causing mutations in AIRE reveal the functional domains of the protein.

Halonen M et al.

Human Mutation, 2004

14974083 (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."