Varaico: Literature-Extracted Genetic Variants

Gene:LRBA
Variant:p.V1695L
Back to variants list

LRBA

NM_001364905.1:p.V1695L

Associated Papers

Loss-of-function of lipopolysaccharide-responsive beige-like anchor protein causes inflammatory bowel disease-a case report and literature review.

Wang Z et al.

Translational Pediatrics, 2025

Targeted next-generation sequencing revealed a novel homozygous mutation in the LRBA gene causes severe haemolysis associated with Inborn Errors of Immunity in an Indian family.

Kedar P et al.

Hematology (amsterdam, Netherlands), 2022

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."