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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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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: McGarvey, Peter B., Nightingale, Andrew, Luo, Jie, Huang, Hongzhan, Martin, Maria J., Wu, Cathy, Consortium, UniProt
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Acesso em linha: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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