Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.K161E
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STXBP1

NM_001032221.6: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

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

The active N-terminal region of p67phox. Structure at 1.8 A resolution and biochemical characterizations of the A128V mutant implicated in chronic granulomatous disease.

Grizot S et al.

The Journal of Biological Chemistry, 2001

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