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Publications by Zuoshan Xie

Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family With Episodic Ataxia 2

Multidisciplinary

English

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Identification of a Novel Nonsense Mutation in POLH in a Chinese Pedigree With Xeroderma Pigmentosum, Variant Type

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Identification of a Novel TCOF1 Mutation in a Chinese Family With Treacher Collins Syndrome

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Identification of a Novel Frameshift Mutation in PITX2 Gene in a Chinese Family With Axenfeld-Rieger Syndrome

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Detection of a Novel Mutation in the CACNA1A Gene

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A Novel Nonsense Mutation of ERCC2 in a Vietnamese Family With Xeroderma Pigmentosum Syndrome Group D

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A Novel CACNA1A Nonsense Variant in a Patient Presenting With Paroxysmal Exertion-Induced Dyskinesia

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Identification of a Novel Missense FBN2 Mutation in a Chinese Family With Congenital Contractural Arachnodactyly Using Exome Sequencing

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