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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Bibliographic Details
Published in:Hum Mutat
Main Authors: McGarvey, Peter B., Nightingale, Andrew, Luo, Jie, Huang, Hongzhan, Martin, Maria J., Wu, Cathy, Consortium, UniProt
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2019
Subjects:
Databases
Online Access: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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