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Association of Variants in PLD1, 3p24.1, and 10q11.21 Regions With Hirschsprung’s Disease in Han Chinese Population

Background and Aims: Hirschsprung’s disease (HSCR) is a rare genetically heterogeneous congenital disorder. A recent study based on whole genome sequencing demonstrated that common variants at four novel loci, which contained two intronic variants on CASQ2 and PLD1, and intergenic variants located b...

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Detalles Bibliográficos
Autores principales: Niu, Wei-Bo, Bai, Mei-Rong, Song, Huan-Lei, Lu, Yan-Jiao, Wu, Wen-Jie, Gong, Yi-Ming, Yu, Xian-Xian, Wei, Zhi-Liang, Yu, Wen-Wen, Gu, Bei-Lin, Cai, Wei, Chu, Xun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7381268/
https://www.ncbi.nlm.nih.gov/pubmed/32765588
http://dx.doi.org/10.3389/fgene.2020.00738