Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERCC6

Variant:p.Q794_I795Splc

Back to variants list

ERCC6

NM_000124.4:p.Q794_I795Splc

hg38:chr10:49474243 C>A

Associated Papers

Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.

Sartorelli J et al.

Genes, 2024

38674442 (PubMed )

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."