Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.V340fs
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CXCR4

NM_003467.3:p.V340fs

Associated Papers

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

Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation.

Huang Y et al.

Frontiers in Immunology, 2024

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

35947323 (PubMed )
Supplement: 10875_2022_1312_MOESM6_ESM.xlsx › Sheet1
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