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Updated: Aug 15, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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[Analysis of genetic variant in a child with Aspartylglucosaminuria]

Aiming Gao1, Wanling Deng, Ying Yang

  • 1Department of Endocrinology and Metabolic Diseases, Guiyang Maternal and Child Health Care Hospital, Guiyang Children's Hospital, Guiyang, Guizhou 550003, China. 48282511@qq.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|December 30, 2022
PubMed
Abstract

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