Varaico: Literature-Extracted Genetic Variants

Gene:RHOBTB2
Variant:p.D114H
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RHOBTB2

NM_001160036.2:p.D114H

Associated Papers

Mutant-specific dysfunction of RHOBTB2 impairs mitochondrial function and Na+/K+-ATPase levels in a cell model.

Miyamoto S et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2025

Variants in RHOBTB2 associated with cancer and rare developmental and epileptic encephalopathy.

Solano E et al.

Frontiers in Pediatrics, 2024

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."