Article

Disease-associated genetic variants can cause mutations in tissue-specific protein isoforms

2025-07-26

Abstract excerpt

Genetic variants can cause protein-coding mutations that result in disease. Variants are typically interpreted using the reference transcript for a gene. However, most human multi-exon genes encode alternative isoforms. Here, we show that coding exons in alternative isoforms harbour more population variants than exons of reference isoforms, consistent with their reduced evolutionary constraint, and that these vari...

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Literature Corpus work: 3a359040-7f22-5348-9735-6bf92e00c269
DOI: 10.1101/2025.07.24.666385

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