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Expanding the phenotype associated with biallelic SLC20A2 variants.

Gianluca D'OnofrioMarcello ScalaMariasavina SeverinoRoberta RobertiFerruccio RomanoPatrizia De MarcoMichele IacominoSimona BaldassariPaolo UvaMarco PavanelloStefano GustincichPasquale StrianoFederico ZaraValeria Capra
Published in: European journal of human genetics : EJHG (2023)
Keyphrases
  • copy number
  • intellectual disability
  • autism spectrum disorder
  • gene expression