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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Published on: January 16, 2019

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[Clinical features and genetic analysis of a case with Coffin-Siris syndrome]

Peiwei Zhao1, Dan Gao, Yufeng Huang

  • 1Central Laboratory, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430016, China. hexuelian2013@hotmail.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|October 10, 2018
PubMed
Abstract

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