Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.S319fs
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CXCR4

NM_003467.3:p.S319fs

Associated Papers

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

Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome.

Kumar R et al.

Jci Insight, 2023

Machine learning models-based on integration of next-generation sequencing testing and tumor cell sizes improve subtype classification of mature B-cell neoplasms.

Mu Y et al.

Frontiers in Oncology, 2023

37601650 (PubMed )
Supplement: Table_1.xlsx › Supplement_Tab.3

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

Geier CB et al.

Journal of Clinical Immunology, 2022

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

Zmajkovicova K et al.

Genes and Immunity, 2022

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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."