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A Recurrent Biallelic Pathogenic Variant in TBXAS1 Gene Causing Ghosal Hematodiaphyseal Dysplasia.

Agnes SelinaMadhavi KandagaddalaVrisha Madhuri
Published in: Indian journal of pediatrics (2020)
Keyphrases
  • intellectual disability
  • copy number
  • genome wide
  • genome wide identification
  • gene expression
  • genome wide analysis