Article

UniProt Genomic Mapping for Deciphering Functional Effects of Missense Variants

2017-09-22

Abstract excerpt

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 genetic variation within complex biological processes. Here, we describe mapping UniProtKB human sequences and positional a...

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Literature Corpus work: dbc4291a-6da9-55ee-9f4e-a765872e6ef5
DOI: 10.1101/192914

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