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1 Ergebnisse
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Clinical validity of phenotype-driven analysis software Phe..:
Thuriot, Fanny
;
Buote, Caroline
;
Gravel, Elaine
...
Genetics in Medicine. 20 (2018) 9 - p. 942-949 , 2018
Link:
https://doi.org/10.1038/gim.2017.239
RT Journal T1
Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_gim.2017.239&Exemplar=1&LAN=DE A1 Thuriot, Fanny A1 Buote, Caroline A1 Gravel, Elaine A1 Chénier, Sébastien A1 Désilets, Valérie A1 Maranda, Bruno A1 Waters, Paula J. A1 Jacques, Pierre-Etienne A1 Lévesque, Sébastien PB Elsevier BV YR 2018 SN 1098-3600 JF Genetics in Medicine VO 20 IS 9 SP 942 OP 949 LK http://dx.doi.org/https://doi.org/10.1038/gim.2017.239 DO https://doi.org/10.1038/gim.2017.239 SF ELIB - SuUB Bremen
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