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Updated: Sep 26, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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[Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome]

Jian Ma1, Haixia Ma, Kaihui Zhang

  • 1Jinan Pediatric Research Institute, Children' s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|April 21, 2022
PubMed
Abstract

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