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1 Ergebnisse
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Quantifying prediction of pathogenicity for within-codon co..:
Loong, Lucy
;
Cubuk, Cankut
;
Choi, Subin
...
Genetics in Medicine. 24 (2022) 3 - p. 552-563 , 2022
Link:
https://doi.org/10.1016/j.gim.2021.11.011
RT Journal T1
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gim.2021.11.011&Exemplar=1&LAN=DE A1 Loong, Lucy A1 Cubuk, Cankut A1 Choi, Subin A1 Allen, Sophie A1 Torr, Beth A1 Garrett, Alice A1 Loveday, Chey A1 Durkie, Miranda A1 Callaway, Alison A1 Burghel, George J. A1 Drummond, James A1 Robinson, Rachel A1 Berry, Ian R. A1 Wallace, Andrew A1 Eccles, Diana M. A1 Tischkowitz, Marc A1 Ellard, Sian A1 Ware, James S. A1 Hanson, Helen A1 Turnbull, Clare A1 Samant, S. A1 Lucassen, A. A1 Znaczko, A. A1 Shaw, A. A1 Ansari, A. A1 Kumar, A. A1 Donaldson, A. A1 Murray, A. A1 Ross, A. A1 Taylor-Beadling, A. PB Elsevier BV YR 2022 SN 1098-3600 JF Genetics in Medicine VO 24 IS 3 SP 552 OP 563 LK http://dx.doi.org/https://doi.org/10.1016/j.gim.2021.11.011 DO https://doi.org/10.1016/j.gim.2021.11.011 SF ELIB - SuUB Bremen
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