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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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Dades bibliogràfiques
Publicat a:Hum Mutat
Autors principals: McGarvey, Peter B., Nightingale, Andrew, Luo, Jie, Huang, Hongzhan, Martin, Maria J., Wu, Cathy, Consortium, UniProt
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Accés en línia: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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