Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.S324fs
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CXCR4

NM_003467.3:p.S324fs

Associated Papers

Periodontal disease in patients with WHIM syndrome.

Brenchley L et al.

Journal of Clinical Periodontology, 2024

Unraveling the genetics of transformed splenic marginal zone lymphoma.

Grau M et al.

Blood Advances, 2023

36995085 (PubMed )
Supplement: BLOODA_ADV-2022-009415-mmc1.xlsx › ST7

Characterization of a new WHIM syndrome mutant reveals mechanistic differences in regulation of the chemokine receptor CXCR4.

Luo J et al.

The Journal of Biological Chemistry, 2022

34973340 (PubMed )
Supplement: mmc1.pdf

High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Pillonel V et al.

Leukemia, 2018

29556019 (PubMed )
Supplement: 41375_2018_82_MOESM10_ESM.xlsx › .

WHIM Syndrome With a Novel CXCR4 Variant in a Korean Child.

Shin DW et al.

Annals of Laboratory Medicine, 2017

WHIM Syndrome Caused by Waldenström's Macroglobulinemia-Associated Mutation CXCR4 (L329fs).

Liu Q et al.

Journal of Clinical Immunology, 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."