Systematic analysis of copy number variants of uncertain significance partially overlapping with the haploinsufficient or triplosensitive genes in clinical testing

Systematic analysis of copy number variants of uncertain significance partially overlapping with the haploinsufficient or triplosensitive genes in clinical testing

AbstractBackground: Copy number variants of uncertain significance (VUS) has brought much distress for patients and great counselling challenges for clinicians. Of these, a special type of VUS (HT-VUS), harbouring one or both breakpoints within the established haploinsufficient or triplosensitive ge...

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Bibliographic Details
Main Authors: Ran Zhou, Jiao Jiao, Yan Wang, Lulu Meng, Yiming Li, Yiyun Xu, Ping Hu, Zhengfeng Xu
Format: Article
Language:English
Published: Taylor & Francis Group 2023-12-01
Series:Annals of Medicine
Subjects:
Copy number variants
uncertain significance
haploinsufficient
triplosensitive
genetic counselling
Online Access:https://www.tandfonline.com/doi/10.1080/07853890.2023.2276824

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https://www.tandfonline.com/doi/10.1080/07853890.2023.2276824

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