ADA c.794C>G ;(p.S265C)

Variant ID: 20-43251280-G-C

NM_000022.2(ADA):c.794C>G;(p.S265C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.

Blood
Hashem, Hasan H; Kumar, Ashish R AR; Müller, Ingo I; Babor, Florian F; Bredius, Robbert R; Dalal, Jignesh J; Hsu, Amy P AP; Holland, Steven M SM; Hickstein, Dennis D DD; Jolles, Stephen S; Krance, Robert R; Sasa, Ghadir G; Taskinen, Mervi M; Koskenvuo, Minna M; Saarela, Janna J; van Montfrans, Joris J; Wilson, Keith K; Bosch, Barbara B; Moens, Leen L; Hershfield, Michael M; Meyts, Isabelle I; ,
Publication Date: 2017-12-14

Variant appearance in text: ADA: 794C>G; S265X
PubMed Link: 28974505
Variant Present in the following documents:
  • Main text
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