Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.S339fs
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CXCR4

NM_003467.3:p.S339fs

Associated Papers

Clinicopathologic Features and the Spectrum of Myelokathexis in Warts, Hypogammaglobulinemia, Infections, Myelokathexis Syndrome.

Li J et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2025

Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.

Pantea CL et al.

Scientific Reports, 2025

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

Cutaneous manifestations of WHIM syndrome.

Adhanom R et al.

The Journal of Dermatology, 2025

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

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

TREC Screening for WHIM Syndrome.

Evans MO et al.

Journal of Clinical Immunology, 2021

Lymphoid differentiation of hematopoietic stem cells requires efficient Cxcr4 desensitization.

Freitas C et al.

The Journal of Experimental Medicine, 2017

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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."