Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality
18 名欧洲杂合 KIF1A 变异患者的基因型-表型相关性:评估 KIF1A 变异致病性的关键考虑因素
期刊:Frontiers in Medicine
影响因子:3
doi:10.3389/fmed.2025.1704209
Uhrova Meszarosova, Anna; Galiart, Elea; Lassuthova, Petra; Kolokotronis, Konstantinos; Seidl, Benjamin; Musilova, Alena; Peckova, Anna; Takacsova, Alena; Vyhnalkova, Emilie; Grecmalova, Dagmar; Vlckova, Eva; Skutilova, Vladana; Steindl, Katharina; Rauch, Anita; Stettner, Georg M; Safka Brozkova, Dana