Article

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

2021-01-26

Abstract excerpt

<h4>ABBSTRACT</h4> DYRK1A -related intellectual disability (ID) is among the most frequent monogenic form of ID. We refined the description of this disorder by reporting clinical and molecular data of forty individuals with ID harboring DYRK1A variants. We developed a combination of tools to interpret missense variants, which remains a major challenge in human genetics: i) a specific DYRK1A clinical score, ii) ami...

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Literature Corpus work: c39ba8a9-ebef-56e8-b6b6-8ada09d14ab4
DOI: 10.1101/2021.01.20.21250155

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