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Article

Predicting functional consequences of mutations using molecular interaction network features.

Human genetics - 1 Jun 2022

Ozturk Kivilcim, Carter Hannah

Abstract excerpt

Variant interpretation remains a central challenge for precision medicine. Missense variants are particularly difficult to understand as they change only a single amino acid in a protein sequence yet can have large and varied effects on protein activity. Numerous tools have been developed to identify missense variants with putative disease consequences from protein sequence and structure. However, biological...

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PMID: 34432150
DOI: 10.1007/s00439-021-02329-5
PMCID: PMC8873243

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