Varaico: Literature-Extracted Genetic Variants

Gene:RHOBTB2
Variant:p.R183M
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RHOBTB2

NM_001160036.2:p.R183M

Associated Papers

Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy.

Langhammer F et al.

Human Molecular Genetics, 2025

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

Langhammer F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

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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."