Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERN1

Variant:p.I52T

Back to variants list

ERN1

NM_001433.5:p.I52T

hg38:chr17:64098141 A>G

Associated Papers

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

Brea-Calvo G et al.

American Journal of Human Genetics, 2015

25658047 (PubMed )

Supplement: mmc2.pdf

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."