Varaico: Literature-Extracted Genetic Variants

Gene:AQR
Variant:p.E773Q
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AQR

NM_014691.3:p.E773Q

Associated Papers

Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Rice GI et al.

Human Mutation, 2020

31898846 (PubMed )
Supplement: NIHMS1618607-supplement-Supplements.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."