Article

Structural Insights into Hearing Loss Genetics from Polarizable Protein Repacking

2019-02-21

Abstract excerpt

Hearing loss is associated with ~8100 mutations in 152 genes, and within the coding regions of these genes are over 60,000 missense variants. The majority of these variants are classified as ‘variants of uncertain significance’ to reflect our inability to ascribe a phenotypic effect to the observed amino acid change. A promising source of pathogenicity information are atomic resolution simulations, although input...

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Literature Corpus work: fe860e68-d58c-5f69-ad2a-e24cfb427a22
DOI: 10.1101/556258

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