Determining pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2
Jeffrey Dennis Calhoun, Miriam C. Aziz, Hannah C. Happ, Jonathan Gunti, Colleen Gleason, Najma Mohamed, Kristy Zeng, Meredith Hiller, Emily M. Bryant, Divakar S. Mithal, Irena I. Bellinski, Lisa M. Kinsley, Mona Grimmel, Eva Maria Christina Schwaibold, Constance L. Smith‐Hicks, , Gemma L. Carvill
The paper identifies a founder variant in SZT2 associated with neurodevelopmental disorder and develops a method to distinguish pathogenic variants from VUSs in SZT2.
Brain · Dec 16, 2021Peer-reviewedGenetics