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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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Bibliografiske detaljer
Udgivet i:Hum Mutat
Main Authors: McGarvey, Peter B., Nightingale, Andrew, Luo, Jie, Huang, Hongzhan, Martin, Maria J., Wu, Cathy, Consortium, UniProt
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
Fag:
Online adgang: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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