CYBB c.246del ;(p.S83Vfs*25)

Variant ID: X-37642845-TC-T

NM_000397.3(CYBB):c.246del;(p.S83Vfs*25)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Blood Cells, Molecules & Diseases
Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Bustamante, Jacinta J; Kannengiesser, Caroline C; de Boer, Martin M; van Leeuwen, Karin K; Köker, M Yavuz MY; Wolach, Baruch B; Roesler, Joachim J; Malech, Harry L HL; Holland, Steven M SM; Gallin, John I JI; Stasia, Marie-José MJ
Publication Date: 2010-04-15

Variant appearance in text: CGD: 246delC
PubMed Link: 20167518
Variant Present in the following documents:
  • Main text
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