Article

Structural mapping of <i>GABRB3</i> variants reveals genotype-phenotype correlations

2021-06-04

Abstract excerpt

<h4>Purpose</h4> Pathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability. In the present study, we analyzed a large cohort of individuals with GABRB3 variants to deepen the phenotypic understanding and investigate genotype-phenotype correlations. <h4>Methods</h4>...

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Literature Corpus work: 485ae174-c59b-5a5c-972f-0bc5f93707ae
DOI: 10.1101/2021.06.04.21256727

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