Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.V869fs
Back to variants list

ERCC5

NM_000123.4:p.V869fs

Associated Papers

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

Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal-onset Cockayne syndrome features.

Ricotti R et al.

Clinical Genetics, 2018

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."