Varaico: Literature-Extracted Genetic Variants

Gene:EDN1
Variant:p.E78Splc
Back to variants list

EDN1

NM_001955.5:p.E78Splc

Associated Papers

uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.

Soukarieh O et al.

Npj Genomic Medicine, 2023

37848456 (PubMed )
Supplement: 41525_2023_378_MOESM3_ESM.xlsx › Carrier_of_ENG_c.-79CT

Polymorphisms in endothelin system genes, arsenic levels and obesity risk.

Martínez-Barquero V et al.

Plos One, 2015

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."