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Towards improved genomic decision with structure-assisted variant interpretation

2026-04-20

Abstract excerpt

<title>Abstract</title> <p> Background Inborn errors of immunity (IEI) are rare monogenic diseases characterized by immune system dysfunctions. Molecular diagnostic methods, such as next-generation sequencing (NGS), are increasingly used for molecular diagnosis and exploring the genetic basis of these disorders. However, patients often receive inconclusive diagnoses due to variants of uncertain significance (VU...

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Literature Corpus work: a1ed49b4-24fe-5609-964d-c549ea428c1a
DOI: 10.21203/rs.3.rs-9451647/v1

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