Varaico: Literature-Extracted Genetic Variants

Gene:EDN3
Variant:p.E55*
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EDN3

NM_207034.3:p.E55*

Associated Papers

[Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].

Otręba M et al.

Postepy Higieny I Medycyny Doswiadczalnej (online), 2013

Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy.

Kapoor S et al.

Molecular Vision, 2012

Review and update of mutations causing Waardenburg syndrome.

Pingault V et al.

Human Mutation, 2010

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

Viñuela A et al.

American Journal of Medical Genetics. Part A, 2009

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

[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."