Varaico: Literature-Extracted Genetic Variants

Gene:RORA
Variant:p.C109R
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RORA

NM_134260.3:p.C109R

Associated Papers

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

Talarico M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice.

De Wachter M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."