Varaico: Literature-Extracted Genetic Variants

Gene:ERCC4
Variant:p.W450*
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ERCC4

NM_005236.3:p.W450*

Associated Papers

ctDNA-based liquid biopsy reveals wider mutational profile with therapy resistance and metastasis susceptibility signatures in early-stage breast cancer patients.

Bharde A et al.

The Journal of Liquid Biopsy, 2025

40027235 (PubMed )
Supplement: mmc4.xlsx › Sheet1

Beyond Huntington's Disease - Late-Onset Chorea Caused by a Homozygous Variant in ERCC4.

Barthel PC et al.

Cerebellum (london, England), 2024

Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.

Carvalho NA et al.

Journal of Medical Genetics, 2023

37536918 (PubMed )
Supplement: jmg-2023-109269supp001.xlsx › SuppTable_3

Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea.

Kulikowska J et al.

Frontiers in Genetics, 2023

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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."