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missense variant
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RNDr. Filip Lhota Ph.D.
Academic staff at First Faculty of Medicine
11 publications
Publications
publication
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer
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
Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma
2015 |
First Faculty of Medicine
publication
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes
2018 |
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
The c.657de15 variant in the NBN gene predisposes to pancreatic cancer
2016 |
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
RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk
2016 |
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
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