Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality.
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| Title: | Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality. |
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| Authors: | Uhrova Meszarosova A; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia., Galiart E; Neuromuscular Center Zurich and Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Lassuthova P; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia., Kolokotronis K; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Seidl B; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Musilova A; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia., Peckova A; Department of Medical Genetics, Masaryk Hospital, Ústí nad Labem, Czechia., Takacsova A; Department of Medical Genetics and Genomics, Faculty Hospital, Brno, Czechia., Vyhnalkova E; Department of Biology and Medical Genetics, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia., Grecmalova D; Institute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava and Institute of Laboratory Medicine, Medical Faculty, Ostrava, Czechia., Vlckova E; Department of Neurology, Masaryk University and University Hospital Brno, Brno, Czechia., Skutilova V; Department of Molecular Biology, Faculty Hospital Hradec Kralove, Hradec Kralove, Czechia., Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Stettner GM; Neuromuscular Center Zurich and Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Safka Brozkova D; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia. |
| Source: | Frontiers in medicine [Front Med (Lausanne)] 2026 Jan 08; Vol. 12, pp. 1704209. Date of Electronic Publication: 2026 Jan 08 (Print Publication: 2025). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101648047 Publication Model: eCollection Cited Medium: Print ISSN: 2296-858X (Print) Linking ISSN: 2296858X NLM ISO Abbreviation: Front Med (Lausanne) Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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