An RNA-informed dosage sensitivity map reflects the intrinsic functional nature of genes

Understanding dosage sensitivity or why Mendelian diseases have dominant vs. recessive modes of inheritance is crucial for uncovering the etiology of human disease. Previous knowledge of dosage sensitivity is mainly based on observations of rare loss-of-function mutations or copy number changes, whi...

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Detalles Bibliográficos
Autores principales: Dong, Danyue, Shen, Haoyu, Wang, Zhenguo, Liu, Jiaqi, Li, Zhe, Li, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502852/
https://www.ncbi.nlm.nih.gov/pubmed/37619562
http://dx.doi.org/10.1016/j.ajhg.2023.08.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502852/
https://www.ncbi.nlm.nih.gov/pubmed/37619562
http://dx.doi.org/10.1016/j.ajhg.2023.08.002

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