Varaico: Literature-Extracted Genetic Variants

Gene:EDN3
Variant:p.A88insFs
Back to variants list

EDN3

NM_207034.3:p.A88insFs

Associated Papers

A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3.

Matera I et al.

Pigment Cell Research, 2007

A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease.

Svensson PJ et al.

Pediatric Research, 1999

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."