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Prediction of Alzheimer’s disease-specific phospholipase c gamma-1 SNV by deep learning-based approach for high-throughput screening

Exon splicing triggered by unpredicted genetic mutation can cause translational variations in neurodegenerative disorders. In this study, we discover Alzheimer’s disease (AD)-specific single-nucleotide variants (SNVs) and abnormal exon splicing of phospholipase c gamma-1 (PLCγ1) gene, using genome-w...

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Detalles Bibliográficos
Autores principales: Kim, Sung-Hyun, Yang, Sumin, Lim, Key-Hwan, Ko, Euiseng, Jang, Hyun-Jun, Kang, Mingon, Suh, Pann-Ghill, Joo, Jae-Yeol
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7826347/
https://www.ncbi.nlm.nih.gov/pubmed/33397809
http://dx.doi.org/10.1073/pnas.2011250118