ADA c.482G>A ;(p.W161*)

Variant ID: 20-43252967-C-T

NM_000022.2(ADA):c.482G>A;(p.W161*)

This variant was identified in 1 publication

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: 482G>A; W161X
PubMed Link: 32307643
Variant Present in the following documents:
  • Main text
  • 10875_2020_Article_777.pdf
View BVdb publication page