Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.R322fs
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CXCR4

NM_003467.3:p.R322fs

Associated Papers

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

Geier CB et al.

Journal of Clinical Immunology, 2022

35947323 (PubMed )
Supplement: 10875_2022_1312_MOESM4_ESM.xlsx › CXCR4

TREC Screening for WHIM Syndrome.

Evans MO et al.

Journal of Clinical Immunology, 2021

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

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."