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Article

Phenotypic convergence: a novel phenomenon in the diagnostic process of Mendelian genetic disorders

2023-01-18

Abstract excerpt

<h4>Introduction</h4> The study of Mendelian disease has yielded a large body of knowledge about the phenotypic presentation of disease. Less is known about the way the diseases are reflected in the electronic health record (EHR). <h4>Aim</h4> To develop an EHR-based model of the diagnostic trajectory and investigate data availability and the longitudinal distribution of signs and symptoms of a Mendelian disorder...

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Literature Corpus work
ade60623-8dc2-5f45-9a6c-bdd8b04c2c05
DOI
10.1101/2023.01.17.23284691
Open publication

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Phenotypic convergence: a novel phenomenon in the diagnostic process of Mendelian genetic disordersDOI 10.1101/2023.01.17.23284691
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