Litcius/Paper detail

A new neurodevelopmental disorder linked to heterozygous variants in UNC79

Allan Bayat, Zhenjiang Liu, Sheng Luo, Christina Fenger, Anne F. Højte, Bertrand Isidor, Benjamin Cogné, Austin Larson, Caterina Zanus, Flavio Faletra, Boris Keren, Luciana Musante, Isabelle Gourfinkel‐An, Perrine Charles, Caroline Demily, Gaeton Lesca, Wei‐Ping Liao, Dejian Ren

2023Genetics in Medicine24 citationsDOIOpen Access PDF

Topics & Concepts

Neurodevelopmental disorderGeneticsHeterozygote advantageCompound heterozygosityMedicinePsychologyAlleleBiologyGeneIon channel regulation and functionGenomics and Rare DiseasesCardiac electrophysiology and arrhythmias