Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.K327fs
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CXCR4

NM_003467.3:p.K327fs

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

Periodontal disease in patients with WHIM syndrome.

Brenchley L et al.

Journal of Clinical Periodontology, 2024

A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome.

McDermott DH et al.

The Journal of Clinical Investigation, 2023

37561579 (PubMed )
Supplement: jci-133-164918-s097.pdf

Aberrant CXCR4 Signaling at Crossroad of WHIM Syndrome and Waldenstrom's Macroglobulinemia.

Milanesi S et al.

International Journal of Molecular Sciences, 2020

Genomic Landscape of CXCR4 Mutations in Waldenström Macroglobulinemia.

Poulain S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

Clonal architecture of CXCR4 WHIM-like mutations in Waldenström Macroglobulinaemia.

Xu L et al.

British Journal of Haematology, 2016

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."