ADA c.881C>A ;(p.T294K)

Variant ID: 20-43249753-G-T

NM_000022.2(ADA):c.881C>A;(p.T294K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Urogenital Abnormalities in Adenosine Deaminase Deficiency.

Journal Of Clinical Immunology
Pajno, Roberta R; Pacillo, Lucia L; Recupero, Salvatore S; Cicalese, Maria P MP; Ferrua, Francesca F; Barzaghi, Federica F; Ricci, Silvia S; Marzollo, Antonio A; Pecorelli, Silvia S; Azzari, Chiara C; Finocchi, Andrea A; Cancrini, Caterina C; Di Matteo, Gigliola G; Russo, Gianni G; Alfano, Massimo M; Lesma, Arianna A; Salonia, Andrea A; Adams, Stuart S; Booth, Claire C; Aiuti, Alessandro A
Publication Date: 2020-05

Variant appearance in text: ADA: T294K
PubMed Link: 32307643
Variant Present in the following documents:
  • Main text
  • 10875_2020_Article_777.pdf
View BVdb publication page



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