Varaico: Literature-Extracted Genetic Variants

Gene:APAF1
Variant:p.E570D
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APAF1

NM_181861.2:p.E570D

Associated Papers

Gene mutations and clinical phenotypes in 15 Chinese children with cryopyrin-associated periodic syndrome (CAPS).

Li C et al.

Science China. Life Sciences, 2017

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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."