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Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I

Zhijie Niu, Jia‐Da Li, Fen Tang, Jie Sun, Xueping Wang, Lu Jiang, Lingyun Mei, Hongsheng Chen, Yalan Liu, Xinzhang Cai, Yong Feng, Chufeng He

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Key concepts: PAX3, Haploinsufficiency, Waardenburg syndrome, Biology, Microphthalmia-associated transcription factor, Genetics, Mutation, Phenotype

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Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I — Research Paper | ScholarLens