UniProt genomic mapping for deciphering functional effects of missense variants

Understanding the association of genetic variation with its functional consequences in proteins is essential for the interpretation of genomic data and identifying causal variants in diseases. Integration of protein function knowledge with genome annotation can assist in rapidly comprehending geneti...

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Detalles Bibliográficos
Autores principales: McGarvey, Peter B., Nightingale, Andrew, Luo, Jie, Huang, Hongzhan, Martin, Maria J., Wu, Cathy, Consortium, UniProt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Databases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563471/
https://www.ncbi.nlm.nih.gov/pubmed/30840782
http://dx.doi.org/10.1002/humu.23738

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563471/
https://www.ncbi.nlm.nih.gov/pubmed/30840782
http://dx.doi.org/10.1002/humu.23738

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