Variant curation of the largest compendium of FOXL2 coding and non-coding sequence and structural variants in BPES
Charlotte Matton, Julie Van De Velde, Marieke De Bruyne…·Elfride B. W. De Baere
The paper curates and classifies the largest compendium of FOXL2 sequence and structural variants in BPES, identifying key mutational patterns and improving diagnostic and genetic counseling.