Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.Y402H
Back to variants list

ERCC6

NM_000124.4:p.Y402H

Associated Papers

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1635.580

Association between CFH Y402H polymorphism and age related macular degeneration in North Indian cohort.

Sharma NK et al.

Plos One, 2013

Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition.

Tuo J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2006

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."