Functional Tests to Resolve Unsolved Rare Diseases. Rares.

Name: Functional Tests to Resolve Unsolved Rare Diseases. Rares.
Published: 2023
License: Public Domain

University Hospital, Bordeaux · 2023

ClinicalTrials.gov · Datasets · License: Public Domain · 2023

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cysticfibrosis geneexpressionregulation intellectualdisability rnaseq translationalresearch

intellectual disability, rubinstein-taybi syndrome, cystic fibrosis, congenital heart defect, periventricular nodular heterotopia, neurodegeneration with brain iron accumulation (nbia), albinism, variant of unknown significance, functional genetics, translational research, rnaseq, gene expression regulation

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Record · ID 914238
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