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rare missense variants
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KMT2B Rare Missense Variants in Generalized Dystonia
2017 |
First Faculty of Medicine
publication
Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic
2015 |
First Faculty of Medicine
publication
Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia
2019 |
Second Faculty of Medicine
publication
Shifting landscapes of human MTHFR missense-variant effects
2021 |
First Faculty of Medicine
publication
Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease
2022 |
Second Faculty of Medicine