Article

Pathogenicity Prediction of GABA <sub>A</sub> Receptor Missense Variants

2023-11-16

Abstract excerpt

<h4>ABSTRACT</h4> Variants in the genes encoding the subunits of gamma-aminobutyric acid type A (GABA A ) receptors are associated with epilepsy. To date, over 1000 clinical variants have been identified in these genes. However, the majority of these variants lack functional studies and their clinical significance is uncertain although accumulating evidence indicates that proteostasis deficiency is the major dis...

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Literature Corpus work: 50610901-eefc-5029-918f-9c35d3e86ca5
DOI: 10.1101/2023.11.14.567135

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