Improved KCNQ2 gene missense variant interpretation with artificial intelligence
Improved KCNQ2 gene missense variant interpretation with artificial intelligence
About this item
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Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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Language
English
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Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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Contents
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 k...
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Full title
Improved KCNQ2 gene missense variant interpretation with artificial intelligence
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TN_cdi_proquest_journals_2726607587
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2726607587
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E-ISSN
2692-8205
DOI
10.1101/2022.10.20.513007
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https://www.proquest.com/docview/2726607587?pq-origsite=primo&accountid=13902
