Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.G323_S324insFs
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CXCR4

NM_003467.3:p.G323_S324insFs

Associated Papers

Clinicopathologic Features and the Spectrum of Myelokathexis in Warts, Hypogammaglobulinemia, Infections, Myelokathexis Syndrome.

Li J et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 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

Unraveling the genetics of transformed splenic marginal zone lymphoma.

Grau M et al.

Blood Advances, 2023

36995085 (PubMed )
Supplement: BLOODA_ADV-2022-009415-mmc1.xlsx › ST7

Multicenter Experience of Hematopoietic Stem Cell Transplantation in WHIM Syndrome.

Laberko A et al.

Journal of Clinical Immunology, 2022

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

Ma X et al.

Frontiers in Immunology, 2022

Aberrant CXCR4 Signaling at Crossroad of WHIM Syndrome and Waldenstrom's Macroglobulinemia.

Milanesi S et al.

International Journal of Molecular Sciences, 2020

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 › .

How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome.

Badolato R et al.

Blood, 2017

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.

Beaussant Cohen S et al.

Orphanet Journal of Rare Diseases, 2012

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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."