Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.V320delFs
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CXCR4

NM_003467.3:p.V320delFs

Associated Papers

WHIM syndrome in a child without the classic tetrad: a case confirmed by de novo CXCR4 mutation.

Al Lohaibi R et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2026

Analysis and Interpretation of Somatic NMD-Escaping Variants in Oncogenes and Dual-Function Genes across Adult and Pediatric Cancer Cohorts.

Eldomery MK et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41332868 (PubMed )
Supplement: media-6.xlsx › Sheet1

Unexpected diagnosis of WHIM syndrome in refractory autoimmune cytopenia.

Garcia-Carmona Y et al.

Blood Advances, 2024

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

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

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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."