ADA c.50A>C ;(p.H17P)

Variant ID: 20-43264913-T-G

NM_000022.2(ADA):c.50A>C;(p.H17P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

Blood
Cicalese, Maria Pia MP; Ferrua, Francesca F; Castagnaro, Laura L; Pajno, Roberta R; Barzaghi, Federica F; Giannelli, Stefania S; Dionisio, Francesca F; Brigida, Immacolata I; Bonopane, Marco M; Casiraghi, Miriam M; Tabucchi, Antonella A; Carlucci, Filippo F; Grunebaum, Eyal E; Adeli, Mehdi M; Bredius, Robbert G RG; Puck, Jennifer M JM; Stepensky, Polina P; Tezcan, Ilhan I; Rolfe, Katie K; De Boever, Erika E; Reinhardt, Rickey R RR; Appleby, Jonathan J; Ciceri, Fabio F; Roncarolo, Maria Grazia MG; Aiuti, Alessandro A
Publication Date: 2016-07-07

Variant appearance in text: ADA: H17P
PubMed Link: 27129325
Variant Present in the following documents:
  • Main text
View BVdb publication page