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- [21] Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2017, 137 (10) : S232 - S232Ghosh, A.Navarini, A.
- [22] ApoB lipoproteins containing ApoC3 are risk factors for recurrent coronary events in diabetic patientsDIABETES, 2001, 50 : A7 - A8Lee, SJMoye, LSacks, FM
- [23] Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic EncephalopathyAMERICAN JOURNAL OF HUMAN GENETICS, 2017, 101 (01) : 65 - 74Lehman, AnnaThouta, SamratMancini, Grazia M. S.Naidu, Sakkubaivan Slegtenhorst, MarjonMcWalter, KirstyPerson, RichardMwenifumbo, JillSalvarinova, RamonaGuella, IlariaMcKenzie, Marna B.Datta, AnitaConnolly, Mary B.Kalkhoran, Somayeh MojardPoburko, DamonFriedman, Jan M.Farrer, Matthew J.Demos, MichelleDesai, SonalClaydon, Thomas
- [24] Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypesBRAIN, 2024, 147 (05) : 1837 - 1855Rinaldi, BerardoBayat, AllanZachariassen, Linda G.Sun, Jia-HuiGe, Yu-HanZhao, DanBonde, KristineMadsen, Laura H.Awad, Ilham Abdimunim AliBagiran, DuyguSbeih, AmalShah, Syeda MaidahEl-Sayed, ShaymaaLyngby, Signe M.Pedersen, Miriam G.Stenum-Berg, CharlotteWalker, Louise ClaudiaKrey, IlonaDelahaye-Duriez, AndreeEmrick, Lisa T.Sully, KrystalMurali, Chaya N.Burrage, Lindsay C.Gonzalez, Julie Ana PlaudParnes, MeredFriedman, JenniferIsidor, BertrandLefranc, JeremieRedon, SylviaHeron, DelphineMignot, CyrilKeren, BorisFradin, MelanieDubourg, ChristeleMercier, SandraBesnard, ThomasCogne, BenjaminDeb, WallidRivier, ClotildeMilani, DonatellaBedeschi, Maria FrancescaDi Napoli, ClaudiaGrilli, FedericoMarchisio, PaolaKoudijs, SuzannaVeenma, DanielleArgilli, EmanuelaLynch, Sally AnnAu, Ping Yee BillieValenzuela, Fernando Eduardo Ayala
- [25] Loss-of-function and gain-of-function mutations in the upper surface of the I-domain-like structure of the integrin β3 subunit.BLOOD, 2000, 96 (11) : 244A - 244AYamanouchi, JHato, TTamura, TMinamoto, YYasukawa, MFujita, S
- [26] De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsyJOURNAL OF MEDICAL GENETICS, 2015, 52 (05) : 330 - 337Blanchard, Maxime G.Willemsen, Marjolein H.Walker, Jaclyn B.Dib-Hajj, Sulayman D.Waxman, Stephen G.Jongmans, Marjolijn C. J.Kleefstra, Tjitskevan de Warrenburg, Bart P.Praamstra, PeterNicolai, JoostYntema, Helger G.Bindels, Rene J. M.Meisler, Miriam H.Kamsteeg, Erik-Jan
- [27] Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structureNATURE COMMUNICATIONS, 2022, 13 (01)Gerasimavicius, LukasLivesey, Benjamin J.Marsh, Joseph A.
- [29] Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structureNature Communications, 13Lukas GerasimaviciusBenjamin J. LiveseyJoseph A. Marsh
- [30] REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function VariantsHUMAN MUTATION, 2023, 2023Hopkins, Jasmin J.Wakeling, Matthew N.Johnson, Matthew B.Flanagan, Sarah E.Laver, Thomas W.