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Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.

Guoying ChangLingwen YingQianwen ZhangBiyun FengRuen YaoYu DingJuan LiXiaodong HuangYongnian ShenTingting YuJian WangXiumin Wang
Published in: BMC endocrine disorders (2024)
Gene analysis can aid in the classification, treatment, and prognosis of children with HH. In this study, the identification of seven known and two novel variants in the ABCC8 gene further enriched the variation spectrum of the gene.
Keyphrases
  • copy number
  • genome wide
  • genome wide identification
  • type diabetes
  • machine learning
  • gene expression
  • genome wide analysis
  • transcription factor
  • weight loss
  • skeletal muscle