CD4 c.1358A>G ;(p.K453R)

Variant ID: 12-6928476-A-G

NM_000616.4(CD4):c.1358A>G;(p.K453R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.

Journal Of Clinical Immunology
Yap, Jin Yan JY; Moens, Leen L; Lin, Ming-Wei MW; Kane, Alisa A; Kelleher, Anthony A; Toong, Catherine C; Wu, Kathy H C KHC; Sewell, William A WA; Phan, Tri Giang TG; Hollway, Georgina E GE; Enthoven, Karen K; Gray, Paul E PE; Casas-Martin, Jose J; Wouters, Carine C; De Somer, Lien L; Hershfield, Michael M; Bucciol, Giorgia G; Delafontaine, Selket S; Ma, Cindy S CS; Tangye, Stuart G SG; Meyts, Isabelle I
Publication Date: 2021-11

Variant appearance in text: CD4: 1358A>G
PubMed Link: 34657246
Variant Present in the following documents:
  • 10875_2021_Article_1141.pdf
View BVdb publication page