A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
Maria Wilbe; Sanna Gudmundsson; Josefin Johansson; Adam Ameur; Eva‐Lena Stattin; Göran Annerén; Helena Malmgren; Carina Frykholm; Marie‐Louise Bondeson
Author Information: Department of Immunology, Genetics, and Pathology, Science for Life Laboratory
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