NeuroCNVscore: a tissue-specific framework to prioritise the pathogenicity of CNVs in neurodevelopmental disorders

BACKGROUND: Neurodevelopmental disorders (NDDs) are associated with altered development of the brain especially in childhood. Copy number variants (CNVs) play a crucial role in the genetic aetiology of NDDs by disturbing gene expression directly at linear sequence or remotely at three-dimensional ge...

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Detalles Bibliográficos
Autores principales: Liu, Xuanshi, Xu, Wenjian, Leng, Fei, Zhang, Peng, Guo, Ruolan, Zhang, Yue, Hao, Chanjuan, Ni, Xin, Li, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10335557/
https://www.ncbi.nlm.nih.gov/pubmed/37407247
http://dx.doi.org/10.1136/bmjpo-2023-001966

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10335557/
https://www.ncbi.nlm.nih.gov/pubmed/37407247
http://dx.doi.org/10.1136/bmjpo-2023-001966

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