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Published in 2021 at "Human Genome Variation"
DOI: 10.1038/s41439-020-00128-4
Abstract: A20 haploinsufficiency (HA20), a disease caused by loss-of-function TNFAIP3 mutations, manifests various autoinflammatory and/or autoimmune symptoms. Some cases of HA20 were initially diagnosed as very early onset inflammatory bowel disease (VEO-IBD). We performed whole-exome sequencing…
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Keywords:
onset;
bowel disease;
inflammatory bowel;
disease ... See more keywords