Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.S339delFs
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CXCR4

NM_003467.3:p.S339delFs

Associated Papers

Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.

Pantea CL et al.

Scientific Reports, 2025

A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome.

McDermott DH et al.

The Journal of Clinical Investigation, 2023

37561579 (PubMed )
Supplement: jci-133-164918-s097.pdf

New genetic and epigenetic insights into the chemokine system: the latest discoveries aiding progression toward precision medicine.

Xu H et al.

Cellular & Molecular Immunology, 2023

Case Report: A Novel CXCR4 Mutation in a Chinese Child With Kawasaki Disease Causing WHIM Syndrome.

Ma X et al.

Frontiers in Immunology, 2022

High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Pillonel V et al.

Leukemia, 2018

29556019 (PubMed )
Supplement: 41375_2018_82_MOESM10_ESM.xlsx › .

Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.

Moens LN et al.

Plos One, 2014

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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."