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spliced variants
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Person
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RNDr. Markéta Janatová Ph.D.
Academic staff at First Faculty of Medicine
1 class
61 publications
Class
class
The use of modern diagnostic and therapeutic methods in neurorehabilitation
B02332 |
First Faculty of Medicine
Publications
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
Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma
2023 |
First Faculty of Medicine, Faculty of Science, Central Library of Charles University
publication
Germline multigene panel testing of patients with endometrial cancer
2023 |
First Faculty of Medicine, Faculty of Science, Faculty of Medicine in Pilsen
publication
Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex
2023 |
First Faculty of Medicine, Faculty of Science
publication
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
2023 |
First Faculty of Medicine, Central Library of Charles University
publication
Classification of germline variants identified in cancer predisposition genetic testing - consensus of the CZECANCA consortium
2023 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Polygenic risk score (PRS) and its potential for breast cancer risk stratification
2023 |
First Faculty of Medicine
publication
Early-Onset Ovarian Cancer <30 Years: What Do We Know about Its Genetic Predisposition?
2023 |
First Faculty of Medicine
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