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

Background: 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 genes, wer...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhou, Ran, Jiao, Jiao, Wang, Yan, Meng, Lulu, Li, Yiming, Xu, Yiyun, Hu, Ping, Xu, Zhengfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2023
Materias:
Medical Genetics & Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623895/
https://www.ncbi.nlm.nih.gov/pubmed/37917952
http://dx.doi.org/10.1080/07853890.2023.2276824

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623895/
https://www.ncbi.nlm.nih.gov/pubmed/37917952
http://dx.doi.org/10.1080/07853890.2023.2276824

Ejemplares similares