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1 Ergebnisse
1
Germline CNV Detection through Whole-Exome Sequencing (WES)..:
Faidon-Nikolaos Tilemis
;
Nikolaos M. Marinakis
;
Danai Veltra
...
https://www.mdpi.com/2073-4425/14/7/1490. , 2023
Link:
https://doi.org/10.3390/genes14071490
RT Journal T1
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:3be922b4f06344da85176a939e4770a3&Exemplar=1&LAN=DE A1 Faidon-Nikolaos Tilemis A1 Nikolaos M. Marinakis A1 Danai Veltra A1 Maria Svingou A1 Kyriaki Kekou A1 Anastasios Mitrakos A1 Maria Tzetis A1 Konstantina Kosma A1 Periklis Makrythanasis A1 Joanne Traeger-Synodinos A1 Christalena Sofocleous PB MDPI AG YR 2023 K1 Whole-Exome Sequencing K1 Copy Number Variants K1 ExomeDepth K1 diagnostic yield K1 complex genotypes K1 rare diseases K1 Genetics K1 QH426-470 JF https://www.mdpi.com/2073-4425/14/7/1490 LK http://dx.doi.org/https://doi.org/10.3390/genes14071490 DO https://doi.org/10.3390/genes14071490 SF ELIB - SuUB Bremen
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