Varaico: Literature-Extracted Genetic Variants

Gene:UBB
Variant:p.Q40*
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UBB

NM_018955.4:p.Q40*

Associated Papers

Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.

Kang JQ et al.

Jama Neurology, 2016

mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.

Macdonald RL et al.

Epilepsia, 2012

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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."