Varaico: Literature-Extracted Genetic Variants

Gene:EDN3
Variant:p.A88Fs
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EDN3

NM_207034.3:p.A88Fs

Associated Papers

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

Kapoor S et al.

Molecular Vision, 2012

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

EDNRB/EDN3 and Hirschsprung disease type II.

McCallion AS et al.

Pigment Cell Research, 2001

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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."