Article

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

2026-06-16

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> 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...

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Literature Corpus work: 3041b8e3-655c-511f-b19f-0eefca0679f4
DOI: 10.21203/rs.3.rs-9927418/v1

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