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

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 and type of change. For TSC1, few have addressed if non-TSC associated ge...

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Pubblicato in:Front Mol Neurosci
Autori principali: Wundrach, Dean, Martinetti, Luis E., Stafford, April M., Bilinovich, Stephanie M., Angara, Kartik, Prokop, Jeremy W., Crandall, Shane R., Vogt, Daniel
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7539171/
https://ncbi.nlm.nih.gov/pubmed/33071758
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnmol.2020.573409
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