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Interpretation of Autosomal Recessive Kidney Diseases With "Presumed Homozygous" Pathogenic Variants Should Consider Technical Pitfalls

Background: A false interpretation of homozygosity for pathogenic variants causing autosomal recessive disorders can lead to improper genetic counseling. The aim of this study was to demonstrate the underlying etiologies of presumed homozygous disease-causing variants harbored in six unrelated child...

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Main Authors:	Haiyue Deng (Author), Yanqin Zhang (Author), Yong Yao (Author), Huijie Xiao (Author), Baige Su (Author), Ke Xu (Author), Na Guan (Author), Jie Ding (Author), Fang Wang (Author)
Format:	Book
Published:	Frontiers Media S.A., 2020-04-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
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