Haploinsufficiency of a20 in a chinese child caused by loss-of-function mutations in tnfaip3: a case report and review of the literature

HIGHLIGHTS

• who: Jing Liu and colleagues from the (UNIVERSITY) have published the research work: Haploinsufficiency of A20 in a Chinese child caused by loss-of-function mutations in TNFAIP3: A case report and review of the literature, in the Journal: (JOURNAL)

SUMMARY

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ACRONYMS

LAY DEFINITIONS

• Haploinsufficiency: A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient
• child: A person 6 to . . .
  

   

  

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