Varaico: Literature-Extracted Genetic Variants

Gene:CYBB
Variant:p.E225Splc
Back to variants list

CYBB

NM_000397.4:p.E225Splc

Associated Papers

[Prenatal diagnosis and novel mutation in X-linked chronic granulomatous disease].

Pérez-Aradas V et al.

Anales De Pediatria (barcelona, Spain : 2003), 2011

Molecular characterization of a novel splice site mutation within the CYBB gene leading to X-linked chronic granulomatous disease.

Barese CN et al.

Pediatric Blood & Cancer, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."