Article

Enhancing Clinical Classification of Protein Variants using ESM2 and UMAP

2025-07-31

Abstract excerpt

Protein sequences may vary due to mutations in their coding DNA sequence, leading to differences in structure and function. The same protein may exist in multiple variant forms, each potentially leading to distinct phenotypic consequences depending on how the alterations affect its structure, function, or expression. Missense variants are single nucleotide substitutions in the DNA sequence that result in the repla...

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Literature Corpus work: 2a64b313-498f-541f-a317-0cc98cfbe4e0
DOI: 10.1101/2025.07.26.666924

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