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1 Ergebnisse
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Detection of Unknown and Rare Pathogenic Variants in Antith..:
Petr Vrtel
;
Ludek Slavik
;
Radek Vodicka
...
https://www.mdpi.com/2075-4418/12/5/1060. , 2022
Link:
https://doi.org/10.3390/diagnostics12051060
RT Journal T1
Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:003c59edd04342368e96e880a89cfc57&Exemplar=1&LAN=DE A1 Petr Vrtel A1 Ludek Slavik A1 Radek Vodicka A1 Julia Stellmachova A1 Martin Prochazka A1 Jana Prochazkova A1 Jana Ulehlova A1 Peter Rohon A1 Tomas Simurda A1 Jan Stasko A1 Ivana Martinkova A1 Radek Vrtel PB MDPI AG YR 2022 K1 high-throughput sequencing K1 NGS K1 antithrombin deficiency K1 protein C deficiency K1 protein S deficiency K1 mutation detection rate K1 Medicine (General) K1 R5-920 JF https://www.mdpi.com/2075-4418/12/5/1060 LK http://dx.doi.org/https://doi.org/10.3390/diagnostics12051060 DO https://doi.org/10.3390/diagnostics12051060 SF ELIB - SuUB Bremen
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