@article{moghadasi-s-2026-157-a,
    author = {Setareh Moghadasi and Maria Zanti and Fonnet Bleeker and Marinus Blok and Merel E Braspenning and Marta Cerna and Margriet J Collée and Christoph Engel and Saskia Hopman and Petra Kleiblova and Wouter Koole and Arjen Mensenkamp and Eline Overwater and Edenir Inez Palmero and Lot Snijders Blok and Katrien Storm and Najada Stringa and Marijke R Wevers and Maaike P G Vreeswijk and David Goldgar and Kyriaki Michailidou and Encarna B Gómez García},
    year = {2026},
    title = {Evidence for pathogenicity of c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance.},
    journal = {Journal of medical genetics},
    volume = {63(3)},
    pages = {157-163}
}