Varaico: Literature-Extracted Genetic Variants

Gene:RHOBTB2
Variant:p.D114E
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RHOBTB2

NM_001160036.2:p.D114E

Associated Papers

Abrupt and Severe Onset of Dystonia, Chorea and Hemiplegic Episodes in a Young Boy with a Novel Heterozygous Missense Variant in the GTPase Domain of RHOBTB2.

Hoang PT et al.

Movement Disorders Clinical Practice, 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."