Login / Signup

Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females.

Aldesia ProvenzanoAndrea La BarberaFrancesco LaiAndrea PerraAntonio FarinaEttore CariatiOrsetta ZuffardiSabrina Rita Giglio
Published in: Journal of clinical medicine (2022)
This study confirms the advantage of WES on cff-DNA and emphasizes the role of the type of the variant in X-linked disorders.
Keyphrases
  • circulating tumor
  • genome wide
  • single molecule
  • cell free
  • gene expression
  • loop mediated isothermal amplification
  • dna methylation
  • label free
  • real time pcr
  • quantum dots
  • circulating tumor cells
  • genome wide analysis