Varaico: Literature-Extracted Genetic Variants

Gene:ADRA2B
Variant:p.H225_L229delins
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ADRA2B

NM_000682.7:p.H225_L229delins

Associated Papers

Identification of a de novo CACNA1B variant and a start-loss ADRA2B variant in paroxysmal kinesigenic dyskinesia.

Yuan Z et al.

Heliyon, 2024

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.

Corbett MA et al.

Epilepsia, 2023

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Corbett MA et al.

Nature Communications, 2019

The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.

De Fusco M et al.

Annals of Neurology, 2014

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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."