Alternative RNA Splicing
Genome-wide Association Studies-GWAS
Comparing Copy Number Variations and SNPs
RNA Splicing
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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
Published on: June 6, 2025
Brandon S Stone1,2, Swetha Ramadesikan3, Regan McGinley1
1Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.
A novel splicing variant in the GNAS gene was identified in a mother and daughter, causing unique phenotypes. This finding expands the known spectrum of GNAS-related disorders and their genetic underpinnings.
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