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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HRNR

Variant:p.G670A

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HRNR

NM_001009931.3:p.G670A

hg38:chr1:152219620 C>G

Associated Papers

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations.

Schubert D et al.

Nature Medicine, 2014

25329329 (PubMed )

Supplement: NIHMS60682-supplement-1.pdf

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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."