Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.S324fs
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CXCR4

NM_003467.3:p.S324fs

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

Risk of Superficial Fungal Infections in WHIM Syndrome.

Strong J et al.

Dermatology and Therapy, 2025

40178760 (PubMed )
Supplement: 13555_2025_1396_MOESM1_ESM.pdf

Cutaneous manifestations of WHIM syndrome.

Adhanom R et al.

The Journal of Dermatology, 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."