Litcius/Paper detail

Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder

Khemika K. Sudnawa, Wenxing Li, Sean Calamia, Cara H. Kanner, Jennifer M Bain, Aliaa H. Abdelhakim, Alexa Geltzeiler, Caroline M Mebane, Frank A Provenzano, Tristan T. Sands, Robert J. Fee, Jacqueline Montes, Yufeng Shen, Wendy K Chung

2024Genetics in Medicine14 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationPhenotypeCorrelationGenotypeGenotype-phenotype distinctionGeneticsMedicineBiologyBioinformaticsGeneMathematicsGeometryHereditary Neurological DisordersGenomics and Rare DiseasesEpilepsy research and treatment