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CG variants
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Person
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RNDr. Andrea Mančíková Ph.D.
External academic staff at First Faculty of Medicine, Faculty of Science
5 publications
Publications
publication
Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort
2019 |
Faculty of Science, First Faculty of Medicine, Central Library of Charles University, Faculty of Mathematics and Physics
publication
Clinical and Functional Characterization of a Novel URAT1 Dysfunctional Variant in a Pediatric Patient with Renal Hypouricemia
2019 |
Faculty of Science, First Faculty of Medicine
publication
Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2
2016 |
Faculty of Science, First Faculty of Medicine
publication
Complex Analysis of Urate Transporters SLC2A9, SLC22A12 and Functional Characterization of Non-Synonymous Allelic Variants of GLUT9 in the Czech Population: No Evidence of Effect on Hyperuricemia and Gout
2014 |
Faculty of Science, First Faculty of Medicine
publication
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia
2020 |
Faculty of Science, First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
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