Article

A structure-aware framework for genomic variant interpretation in genetic skeletal disorders

2026-03-17

Abstract excerpt

<h4>Background</h4> Genetic skeletal disorders (GSDs) comprise a heterogeneous group of rare, predominantly monogenic conditions that are increasingly diagnosed through high-throughput sequencing. While gene discovery has progressed rapidly, interpretation of pathogenic and uncertain variants remains a major bottleneck, in part because their functional consequences are determined at the protein structure level. H...

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Literature Corpus work: eae7570a-4924-5afe-bde7-9481f585a9b5
DOI: 10.64898/2026.03.15.711892

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