Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.S346fs
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CXCR4

NM_003467.3:p.S346fs

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

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

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

Geier CB et al.

Journal of Clinical Immunology, 2022

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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."