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Publication details
Syndrom mentalniho postižení související s DYRK1A: kazuistika
Title in English | DYRK1A-related mental disability syndrome: a case report |
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Authors | |
Year of publication | 2021 |
Type | Conference abstract |
MU Faculty or unit | |
Citation | |
Description | The authors describe a proband with mental retardation caused by a pathogenic sequential variant located in the DYRK1A gene, detected by the WES method. |