Pervasive mislocalization of pathogenic coding variants underlying human disorders

Widespread sequencing has yielded thousands of missense variants predicted or confirmed as disease-causing. This creates a new bottleneck: determining the functional impact of each variant – largely a painstaking, customized process undertaken one or a few genes or variants at a time. Here, we estab...

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Detalles Bibliográficos
Autores principales: Lacoste, Jessica, Haghighi, Marzieh, Haider, Shahan, Lin, Zhen-Yuan, Segal, Dmitri, Reno, Chloe, Qian, Wesley Wei, Xiong, Xueting, Shafqat-Abbasi, Hamdah, Ryder, Pearl. V., Senft, Rebecca, Cimini, Beth A., Roth, Frederick P., Calderwood, Michael, Hill, David, Vidal, Marc, Yi, S. Stephen, Sahni, Nidhi, Peng, Jian, Gingras, Anne-Claude, Singh, Shantanu, Carpenter, Anne E., Taipale, Mikko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10508771/
https://www.ncbi.nlm.nih.gov/pubmed/37732209
http://dx.doi.org/10.1101/2023.09.05.556368

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10508771/
https://www.ncbi.nlm.nih.gov/pubmed/37732209
http://dx.doi.org/10.1101/2023.09.05.556368

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