Article

Improved <i>KCNQ2</i> gene missense variant interpretation with artificial intelligence

2022-10-20

Abstract excerpt

<h4>ABSTRACT</h4> Advances in DNA sequencing technologies have revolutionized rare disease diagnosis, resulting in an increasing volume of available genomic data. Despite this wealth of information and improved procedures to combine data from various sources, identifying the pathogenic causal variants and distinguishing between severe and benign variants remains a key challenge. Mutations in the K v 7.2 voltage-...

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Literature Corpus work: a1851d0b-8abb-51ff-8e84-ba0b35ad75c3
DOI: 10.1101/2022.10.20.513007

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