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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
Publicado en:Hum Mutat
Autores principales: McGarvey, Peter B., Nightingale, Andrew, Luo, Jie, Huang, Hongzhan, Martin, Maria J., Wu, Cathy, Consortium, UniProt
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6563471/
https://ncbi.nlm.nih.gov/pubmed/30840782
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23738
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