Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.L96L
Back to variants list

CYBA

NM_000101.4:p.L96L

Associated Papers

An AAVS1-targeted minigene platform for correction of iPSCs from all five types of chronic granulomatous disease.

Merling RK et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2015

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2010

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."