A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China

A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China

An Jia,1,* Yi Lei,2,* Dan-Ping Liu,2 Lu Pan,2 Hui-Zhen Guan,2 Bicheng Yang1,2 1Medical School, Huanghe Science and Technology College, Zhengzhou, People’s Republic of China; 2Jiangxi Key Laboratory of Birth Defect Prevention and Control, Jiangxi Maternal and Child Health Hospital, Na...

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Bibliographic Details
Main Authors: Jia A, Lei Y, Liu DP, Pan L, Guan HZ, Yang B
Format: Article
Language:English
Published: Dove Medical Press 2023-02-01
Series:Pharmacogenomics and Personalized Medicine
Subjects:
clinical exome sequencing
monogenic diseases
diagnostic rate
phenotypic features
clinical management.
Online Access:https://www.dovepress.com/a-retrospective-analysis-of-clinically-focused-exome-sequencing-result-peer-reviewed-fulltext-article-PGPM

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https://www.dovepress.com/a-retrospective-analysis-of-clinically-focused-exome-sequencing-result-peer-reviewed-fulltext-article-PGPM

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