Structural mapping of GABRB3 variants reveals genotype-phenotype correlation
Katrine M. Johannesen, Sumaiya Iqbal, Milena Guazzi, Nazanin A. Mohammadi, Eduardo Pérez‐Palma, Élise Schaefer, Anne de Saint Martin, Marie Therese Abiwarde, Amy McTague, Roser Maria Pons, Amélie Piton, Manju A. Kurian, Gautam Ambegaonkar, Helen V. Firth, Alba Sanchis‐Juan, , Elena Gardella
The paper analyzes GABRB3 variants in a cohort of 71 individuals to identify genotype-phenotype correlations, finding associations between variant locations and specific clinical features.
Genetics in Medicine · Dec 6, 2021Peer-reviewedGenetic & Genomic Medicine