Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.V320fs
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CXCR4

NM_003467.3:p.V320fs

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

Unexpected diagnosis of WHIM syndrome in refractory autoimmune cytopenia.

Garcia-Carmona Y et al.

Blood Advances, 2024

Periodontal disease in patients with WHIM syndrome.

Brenchley L et al.

Journal of Clinical Periodontology, 2024

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

Somatic mutations in MYD88 and CXCR4 are determinants of clinical presentation and overall survival in Waldenstrom macroglobulinemia.

Treon SP et al.

Blood, 2014

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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."