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A First Clinical and Molecular Study of Rare IVS-II-806 (G > C) (HBB:c.316-45G > C) Variant in the β-globin Gene: A Possibly Benign Variant.

Jianlong ZhuangQi LuoShuhong ZengYu'e ChenShuxia LinYuanbai WangYuying Jiang
Published in: Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion (2022)
In this study, clinical and hematological analysis of the IVS-II-806 (G > C) mutation was first conducted within the Chinese population, with results indicating that it may be a benign variant.
Keyphrases
  • gene expression
  • dna methylation
  • copy number