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1 Ergebnisse
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One in seven pathogenic variants can be challenging to dete..:
Lincoln, Stephen E.
;
Hambuch, Tina
;
Zook, Justin M.
...
Genetics in Medicine. 23 (2021) 9 - p. 1673-1680 , 2021
Link:
https://doi.org/10.1038/s41436-021-01187-w
RT Journal T1
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_s41436-021-01187-w&Exemplar=1&LAN=DE A1 Lincoln, Stephen E. A1 Hambuch, Tina A1 Zook, Justin M. A1 Bristow, Sara L. A1 Hatchell, Kathryn A1 Truty, Rebecca A1 Kennemer, Michael A1 Shirts, Brian H. A1 Fellowes, Andrew A1 Chowdhury, Shimul A1 Klee, Eric W. A1 Mahamdallie, Shazia A1 Cleveland, Megan H. A1 Vallone, Peter M. A1 Ding, Yan A1 Seal, Sheila A1 DeSilva, Wasanthi A1 Tomson, Farol L. A1 Huang, Catherine A1 Garlick, Russell K. A1 Rahman, Nazneen A1 Salit, Marc A1 Kingsmore, Stephen F. A1 Ferber, Matthew J. A1 Aradhya, Swaroop A1 Nussbaum, Robert L. PB Elsevier BV YR 2021 SN 1098-3600 JF Genetics in Medicine VO 23 IS 9 SP 1673 OP 1680 LK http://dx.doi.org/https://doi.org/10.1038/s41436-021-01187-w DO https://doi.org/10.1038/s41436-021-01187-w SF ELIB - SuUB Bremen
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