Article

Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants

2024-11-15

Abstract excerpt

<h4>Background</h4> Genetic variants can impact the structure of the corresponding protein, which can have detrimental effects on protein function. While the effect of protein truncating variants is often easier to evaluate, most genetic variants are missense variants. These variants are mostly single nucleotide variants which result in the exchange of a single amino acid. The effect on protein function of these...

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Literature Corpus work: 4c557cf7-bf3d-5273-8a42-964a675f278e
DOI: 10.1101/2024.11.15.623748

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