Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.N39Y
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PAX3

NM_181458.4:p.N39Y

Associated Papers

Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.

Niu Z et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2021

[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

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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."