Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.V869delFs
Back to variants list

ERCC5

NM_000123.4:p.V869delFs

Associated Papers

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

Germline pathogenic variants in 786 neuroblastoma patients.

Kim J et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36747619 (PubMed )
Supplement: media-1.pdf

XPG: a multitasking genome caretaker.

Muniesa-Vargas A et al.

Cellular and Molecular Life Sciences : Cmls, 2022

35230528 (PubMed )
Supplement: 18_2022_4194_MOESM1_ESM.xlsx › Sheet1

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.

Drury S et al.

American Journal of Medical Genetics. Part A, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."