CYBB c.1170_1182del ;(p.F391Vfs*10)

Variant ID: X-37664273-GGCCCTTTGGCACT-G

NM_000397.3(CYBB):c.1170_1182del;(p.F391Vfs*10)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.

Clinical And Experimental Immunology
Mollin, M M; Beaumel, S S; Vigne, B B; Brault, J J; Roux-Buisson, N N; Rendu, J J; Barlogis, V V; Catho, G G; Dumeril, C C; Fouyssac, F F; Monnier, D D; Gandemer, V V; Revest, M M; Brion, J-P JP; Bost-Bru, C C; Jeziorski, E E; Eitenschenck, L L; Jarrasse, C C; Drillon Haus, S S; Houachée-Chardin, M M; Hancart, M M; Michel, G G; Bertrand, Y Y; Plantaz, D D; Kelecic, J J; Traberg, R R; Kainulainen, L L; Fauré, J J; Fieschi, F F; Stasia, M J MJ
Publication Date: 2021-02

Variant appearance in text: NOX2: 1167_1179delGCCCTTTGGCACT
PubMed Link: 32954498
Variant Present in the following documents:
  • Main text
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