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spliced variants
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Mgr. Jan Ševčík Ph.D.
Academic staff at First Faculty of Medicine
35 publications
Publications
publication
Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues
2020 |
First Faculty of Medicine
publication
Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model
2017 |
First Faculty of Medicine
publication
Expression of human BRCA1 Delta 17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response
2013 |
First Faculty of Medicine, Third Faculty of Medicine
publication
The BRCA1 alternative splicing variant Delta 14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells
2012 |
First Faculty of Medicine, Third Faculty of Medicine
publication
A New Heart-Cutting Method for a Multiplex Quantitative Analysis of Steroid Hormones in Plasma Using 2D-LC/MS/MS Technique
2023 |
First Faculty of Medicine
publication
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer
2019 |
First Faculty of Medicine
publication
Caution: Plasmid DNA topology affects luciferase assay reproducibility and outcomes
2019 |
First Faculty of Medicine
publication
Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance
2019 |
First Faculty of Medicine
publication
BRCA1 and BRCA2 5 ' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding
2018 |
First Faculty of Medicine
publication
Mutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic
2016 |
First Faculty of Medicine
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