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1 Ergebnisse
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Quantifying evidence toward pathogenicity for rare phenotyp..:
Garrett, Alice
;
Loveday, Chey
;
King, Laura
...
Genetics in Medicine. 24 (2022) 1 - p. 41-50 , 2022
Link:
https://doi.org/10.1016/j.gim.2021.08.004
RT Journal T1
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gim.2021.08.004&Exemplar=1&LAN=DE A1 Garrett, Alice A1 Loveday, Chey A1 King, Laura A1 Butler, Samantha A1 Robinson, Rachel A1 Horton, Carrie A1 Yussuf, Amal A1 Choi, Subin A1 Torr, Beth A1 Durkie, Miranda A1 Burghel, George J. A1 Drummond, James A1 Berry, Ian A1 Wallace, Andrew A1 Callaway, Alison A1 Eccles, Diana A1 Tischkowitz, Marc A1 Tatton-Brown, Katrina A1 Snape, Katie A1 McVeigh, Terri A1 Izatt, Louise A1 Woodward, Emma R. A1 Burnichon, Nelly A1 Gimenez-Roqueplo, Anne-Paule A1 Mazzarotto, Francesco A1 Whiffin, Nicola A1 Ware, James A1 Hanson, Helen A1 Pesaran, Tina A1 LaDuca, Holly PB Elsevier BV YR 2022 SN 1098-3600 JF Genetics in Medicine VO 24 IS 1 SP 41 OP 50 LK http://dx.doi.org/https://doi.org/10.1016/j.gim.2021.08.004 DO https://doi.org/10.1016/j.gim.2021.08.004 SF ELIB - SuUB Bremen
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