Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.L213delFs
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PAX3

NM_181458.4:p.L213delFs

Associated Papers

[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2].

Chen J et al.

Yi Chuan = Hereditas, 2008

[A novel mutation in Mitf gene leads to a patient with Waardenburg syndrome type II].

Feng Y et al.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2007

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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."