Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.S341delFs
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CXCR4

NM_003467.3:p.S341delFs

Associated Papers

Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.

Tam CS et al.

Blood Advances, 2024

38315878 (PubMed )
Supplement: BLOODA_ADV-2023-010906-mmc1.pdf

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

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

Badolato R et al.

Blood, 2017

MYD88 L265P and CXCR4 mutations in lymphoplasmacytic lymphoma identify cases with high disease activity.

Schmidt J et al.

British Journal of Haematology, 2015

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

Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients.

Tassone L et al.

The Journal of Allergy and Clinical Immunology, 2009

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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."