Varaico: Literature-Extracted Genetic Variants

Gene:EDN3
Variant:p.A17T
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EDN3

NM_207034.3:p.A17T

Associated Papers

Using whole exome sequencing to identify susceptibility genes associated with nonsyndromic cleft lip with or without cleft palate.

Fu Z et al.

Molecular Genetics and Genomics : Mgg, 2023

Shared genetic susceptibilities for irritable bowel syndrome and depressive disorder in Chinese patients uncovered by pooled whole-exome sequencing.

Zhu S et al.

Journal of Advanced Research, 2020

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.

Li W et al.

Neural Plasticity, 2019

Analysis of protein-coding genetic variation in 60,706 humans.

Lek M et al.

Nature, 2016

27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20

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

Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease.

Garcia-Barceló M et al.

Clinical Chemistry, 2004

[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease].

Bidaud C et al.

Gastroenterologie Clinique Et Biologique, 1997

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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."