Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.V1260Splc
Back to variants list

ERCC6

NM_000124.4:p.V1260Splc

Associated Papers

Atypical features in two adult patients with Cockayne syndrome and analysis of genotype-phenotype correlation.

Cheng H et al.

Chinese Medical Journal, 2023

37106549 (PubMed )
Supplement: cm9-136-2110-s001.pdf

A possible cranio-oro-facial phenotype in Cockayne syndrome.

Bloch-Zupan A et al.

Orphanet Journal of Rare Diseases, 2013

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."