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variant database
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Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases
2020 |
Second Faculty of Medicine
publication
Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient
2016 |
First Faculty of Medicine
publication
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes
2016 |
Second Faculty of Medicine
publication
Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer
2022 |
Faculty of Medicine in Pilsen