A comprehensive curation of FOXL2 variants has been published, detailing both coding and noncoding sequence and structural variants associated with Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome (BPES). This resource enhances understanding of the genetic underpinnings of BPES.
variant curation of the largest compendium of foxl2 coding and noncoding sequence and structural variants in bpes
Original title: “Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.”