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Unsupervised clustering of missense variants in the <i>HNF1A</i> gene using multidimensional functional data aids clinical interpretation

2019-11-02

Abstract excerpt

<h4>Summary</h4> <h4>Background</h4> Exome sequencing in diabetes presents a diagnostic challenge as depending on frequency, functional impact and genomic and environmental contexts, HNF1A variants can cause Maturity-onset Diabetes of the Young (MODY), increase type 2 diabetes risk, or be benign. A correct diagnosis matters as it informs on treatment, progression, and family risk. We describe a multi-dimensional f...

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Literature Corpus work
eed90ed4-7d6f-539f-be74-7703a627cb8d
DOI
10.1101/19010900
Open publication

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Unsupervised clustering of missense variants in the <i>HNF1A</i> gene using multidimensional functional data aids clinical interpretationDOI 10.1101/19010900
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