Varaico: Literature-Extracted Genetic Variants

Gene:EDN3
Variant:p.C173R
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EDN3

NM_207034.3:p.C173R

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

Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients.

Sangkhathat S et al.

Journal of Human Genetics, 2006

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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."