Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.G43V
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PAX3

NM_181458.4:p.G43V

Associated Papers

A novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1.

Zhan L et al.

Frontiers in Genetics, 2025

Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.

Sun F et al.

Orphanet Journal of Rare Diseases, 2024

38844942 (PubMed )
Supplement: 13023_2024_3220_MOESM8_ESM.xls › Sheet1

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.

Li W et al.

Neural Plasticity, 2019

30936914 (PubMed )
Supplement: 7143458.f3.pdf

[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

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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."