Varaico: Literature-Extracted Genetic Variants

Gene:ERCC4
Variant:p.R604Splc
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ERCC4

NM_005236.3:p.R604Splc

Associated Papers

Antibody Deficiency in Xeroderma Pigmentosum.

Rossmanith R et al.

Journal of Clinical Immunology, 2026

Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.

Kerle IA et al.

Npj Precision Oncology, 2025

39794422 (PubMed )
Supplement: 41698_2024_788_MOESM8_ESM.xlsx › patient_1_variants_panel_seq

An unusual presentation of Huntington's disease-like syndrome in a patient with Xeroderma pigmentosum type F: Case report and review of the literature.

De Cleene N et al.

Clinical Parkinsonism & Related Disorders, 2025

Clinicopathological and molecular genetic analysis of 13 cases of primary retroperitoneal Ewing sarcoma.

Wei X et al.

Annals of Diagnostic Pathology, 2024

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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."