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CD4 c.334G>T ;(p.E112*)
Variant ID: 12-6923427-G-T
NM_000616.4(
CD4
):c.334G>T;(p.E112*)
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:
Modeling, optimization, and comparable efficacy of T cell and hematopoietic stem cell gene editing for treating hyper-IgM syndrome.
Embo Molecular Medicine
Vavassori, Valentina V; Mercuri, Elisabetta E; Marcovecchio, Genni E GE; Castiello, Maria C MC; Schiroli, Giulia G; Albano, Luisa L; Margulies, Carrie C; Buquicchio, Frank F; Fontana, Elena E; Beretta, Stefano S; Merelli, Ivan I; Cappelleri, Andrea A; Rancoita, Paola Mv PM; Lougaris, Vassilios V; Plebani, Alessandro A; Kanariou, Maria M; Lankester, Arjan A; Ferrua, Francesca F; Scanziani, Eugenio E; Cotta-Ramusino, Cecilia C; Villa, Anna A; Naldini, Luigi L; Genovese, Pietro P
Publication Date: 2021-03-05
Variant appearance in text: CD4: 334G>T
PubMed Link:
33475257
Variant Present in the following documents:
Main text
EMMM-13-e13545.pdf
View BVdb publication page