Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes

Genetics in Medicine, Published online: 26 January 2021; doi:10.1038/s41436-020-01039-zDeep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes

Source: Genetics in Medicine - January 26, 2021 Category: Genetics & Stem Cells Authors: Marie Hully Tommaso Lo Barco Anna Kaminska Giulia Barcia Claude Cances Cyril Mignot Isabelle Desguerre Nicolas Garcelon Edor Kabashi Rima Nabbout Source Type: research