CD4 c.1268G>A ;(p.R423Q)

Variant ID: 12-6927698-G-A

NM_000616.4(CD4):c.1268G>A;(p.R423Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.

The Journal Of Allergy And Clinical Immunology
Woellner, Cristina C; Gertz, E Michael EM; Schäffer, Alejandro A AA; Lagos, Macarena M; Perro, Mario M; Glocker, Erik-Oliver EO; Pietrogrande, Maria C MC; Cossu, Fausto F; Franco, José L JL; Matamoros, Nuria N; Pietrucha, Barbara B; Heropolitańska-Pliszka, Edyta E; Yeganeh, Mehdi M; Moin, Mostafa M; Español, Teresa T; Ehl, Stephan S; Gennery, Andrew R AR; Abinun, Mario M; Breborowicz, Anna A; Niehues, Tim T; Kilic, Sara Sebnem SS; Junker, Anne A; Turvey, Stuart E SE; Plebani, Alessandro A; Sánchez, Berta B; Garty, Ben-Zion BZ; Pignata, Claudio C; Cancrini, Caterina C; Litzman, Jiri J; Sanal, Ozden O; Baumann, Ulrich U; Bacchetta, Rosa R; Hsu, Amy P AP; Davis, Joie N JN; Hammarström, Lennart L; Davies, E Graham EG; Eren, Efrem E; Arkwright, Peter D PD; Moilanen, Jukka S JS; Viemann, Dorothee D; Khan, Sujoy S; Maródi, László L; Cant, Andrew J AJ; Freeman, Alexandra F AF; Puck, Jennifer M JM; Holland, Steven M SM; Grimbacher, Bodo B
Publication Date: 2010-02

Variant appearance in text: CD4: 1268G>A; R423Q
PubMed Link: 20159255
Variant Present in the following documents:
  • Main text
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