Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.V320fs
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CXCR4

NM_003467.3:p.V320fs

Associated Papers

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

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

Genotype-phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4WHIM variants.

Zmajkovicova K et al.

Genes and Immunity, 2022

New Insights on the Emerging Genomic Landscape of CXCR4 in Cancer: A Lesson from WHIM.

Scala S et al.

Vaccines, 2020

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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."