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Use of whole-exome sequencing to identify novel monogenic gene mutations and genotype–phenotype correlations in Chinese Han children with urolithiasis

The incidence of urolithiasis (UL) in children has been increasing. Although the pathogenesis of pediatric UL is controversial and remains unclear, multiple monogenic causes of UL have been identified. We aim to investigate the prevalence of inherited UL causes and explore the genotype–phenotype cor...

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Detalles Bibliográficos
Autores principales:	Wang, Zhi, He, Tianqu, liu, Li, Tong, Fangyun, Li, Chuangye, Zhao, Yaowang, Li, Yanfang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10152365/ https://www.ncbi.nlm.nih.gov/pubmed/37144129 http://dx.doi.org/10.3389/fgene.2023.1128884

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