Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.K161E
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CYBB

NM_000397.4:p.K161E

Associated Papers

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells.

Bionda C et al.

Human Genetics, 2004

Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.

Stasia MJ et al.

Biochimica Et Biophysica Acta, 2002

Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient.

Bonizzato A et al.

Biochemical and Biophysical Research Communications, 1997

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."