Varaico: Literature-Extracted Genetic Variants

Gene:RORA
Variant:p.Q167*
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RORA

NM_134261.3:p.Q167*

Associated Papers

Novel RORA Variants Reveal Genotype-Phenotype Diversity and Variable Expressivity in Neurodevelopmental Disorders.

Unsel-Bolat G et al.

Clinical Genetics, 2025

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

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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."