Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.V340L
Back to variants list

CXCR4

NM_003467.3:p.V340L

Associated Papers

Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation.

Huang Y et al.

Frontiers in Immunology, 2024

Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.

Geier CB et al.

Journal of Clinical Immunology, 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."