Novel FOXP1 variants were identified, expanding the mutational spectrum associated with intellectual disability.
Key evidence shows that in silico protein structure predictions help classify these variants, potentially aiding diagnosis.
Assessment utilizing RNA analysis highlights the importance of understanding genetic variants related to speech impairment.
Findings support broader applications of in silico methods in genetic variant classification, needing external validation.
Abstract
Our findings expand the mutational spectrum of FOXP1 and underscore the utility of in silico protein structure prediction and RNA analysis in the classification of variants of uncertain significance.