Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.R217del1
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PAX3

NM_181458.4:p.R217del1

Associated Papers

[Mutation analysis of seven patients with Waardenburg syndrome].

Hao Z et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016

MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

Grill C et al.

Human Molecular Genetics, 2013

Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

Yang S et al.

Plos One, 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."