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Article

Comparative Profiles of Pediatric Mendeliome: A Single-Center 572-Whole-Exome Sequencing Study in Xinjiang.

Human heredity - 1 Jan 2026

Li Yan, Cao Chen, Luo Yanfei, Sun Guanghui, Baoerhan Reyilanmu, Julaiti Dilihuma, Li Junkang, Shen Yiping, Maimaiti Miriguli

Abstract excerpt

INTRODUCTION: The aim of the study was to compare the diagnostic yields and utility of whole-exome sequencing (WES) for Mendelian disorders in pediatric patients of different ethnic backgrounds in Xinjiang. METHODS: A retrospective analysis of 572 pediatric patients suspected of Mendelian disorders, admitted to the Pediatric Center of the First Affiliated Hospital of Xinjiang Medical University from January 2016...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42160220
DOI: 10.1159/000552488
PMCID: PMC13387733

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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