Articles with "variant screening" as a keyword



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A Human TSC1 Variant Screening Platform in Gabaergic Cortical Interneurons for Genotype to Phenotype Assessments

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Published in 2020 at "Frontiers in Molecular Neuroscience"

DOI: 10.3389/fnmol.2020.573409

Abstract: The TSC1 and TSC2 genes are connected to multiple syndromes from Tuberous Sclerosis Complex (TSC) to autism spectrum disorder (ASD), with uncertainty if genetic variants cause all or subsets of phenotypes based on the location… read more here.

Keywords: tsc1; genotype phenotype; human tsc1; variant screening ... See more keywords