A20 haploinsufficiency in a neonate caused by a large deletion on chromosome 6q
Abstract Haploinsufficiency of A20 (HA20) is a rare monogenic disease caused by heterozygous loss-of-function mutations in the tumor necrosis factor alpha-induced protein 3 (TNFAIP3) gene located on chromosome 6q23.3. The majority of disease-causing mutations in most cases of HA20 comprise single nu...
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BMC,
2024-01-01T00:00:00Z.
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