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Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.

Ariane Lunati-RozieAlexandre JaninEmmanuelle FaubertSeverine NonyCéline RenouxManuel D CarcaoPascale FanenBenoît FunalotLamisse Mansour-HendiliPhilippe Joly
Published in: British journal of haematology (2023)
Keyphrases
  • copy number
  • genome wide
  • high throughput
  • gene expression