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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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