Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.S687L
Back to variants list

ERCC6

NM_000124.4:p.S687L

Associated Papers

Mechanism of Rad26-assisted rescue of stalled RNA polymerase II in transcription-coupled repair.

Yan C et al.

Nature Communications, 2021

34853308 (PubMed )
Supplement: 41467_2021_27295_MOESM1_ESM.pdf

Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.

Zayoud K et al.

Genes, 2021

34946871 (PubMed )
Supplement: genes-12-01922-s001.zip › Supplementary_Table_S1_Zayoud_K.pdf

Structural basis of human transcription-DNA repair coupling.

Kokic G et al.

Nature, 2021

Defective transcription of ATF3 responsive genes, a marker for Cockayne Syndrome.

Epanchintsev A et al.

Scientific Reports, 2020

Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review.

Kou Y et al.

Medicine, 2018

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.

Calmels N et al.

Journal of Medical Genetics, 2018

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

Calmels N et al.

Orphanet Journal of Rare Diseases, 2016

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Laugel V et al.

Human Mutation, 2010

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."