Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.P644Fs
Back to variants list

LRBA

NM_001364905.1:p.P644Fs

Associated Papers

Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.

Tang WJ et al.

World Journal of Clinical Cases, 2021

Patients with "ALPS-like phenotype" diagnosed with immune dysregulation due to LRBA deficiency.

Fernández KS et al.

Pediatric Blood & Cancer, 2019

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."