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splicing
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Mgr. Petra Zemánková Ph.D.
Academic staff at First Faculty of Medicine
32 publications
Publications
publication
Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification
2019 |
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
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer
2016 |
First Faculty of Medicine
publication
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients
2016 |
First Faculty of Medicine
publication
Low Frequency of Cancer-Predisposition Gene Mutations in Liver Transplant Candidates with Hepatocellular Carcinoma
2023 |
First Faculty of Medicine, Central Library of Charles University, Faculty of Science
publication
Germline multigene panel testing of patients with endometrial cancer
2023 |
First Faculty of Medicine, Faculty of Medicine in Pilsen, 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
Computed tomography angiographic parameters of pulmonary artery as prognostic factors of residual pulmonary hypertension after pulmonary endarterectomy
2021 |
First Faculty of Medicine
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