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Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3).

Miles D ThompsonXueying LiMichele Spencer-ManzonDanielle M AndradeYoshiko MurakamiTaroh KinoshitaThomas O Carpenter
Published in: Genes (2023)
c:284A>G, p.Tyr95Cys. We discuss strategies for establishing evidence for putative digenic inheritance in GPI deficiency disorders.
Keyphrases
  • copy number
  • mitochondrial dna
  • case report
  • genome wide
  • mental health
  • gene expression
  • transcription factor