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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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Principais autores: Ran Zhou, Jiao Jiao, Yan Wang, Lulu Meng, Yiming Li, Yiyun Xu, Ping Hu, Zhengfeng Xu
Format: Artigo
Sprog:Inglês
Udgivet: Taylor & Francis Group 2023-12-01
Serier:Annals of Medicine
Fag:
Copy number variants
uncertain significance
haploinsufficient
triplosensitive
genetic counselling
Online adgang:https://www.tandfonline.com/doi/10.1080/07853890.2023.2276824
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