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XB--1011225
Papers associated with mmut (and Disease Ontology)
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A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle., Sartelet A, Stauber T, Coppieters W, Ludwig CF, Fasquelle C, Druet T, Zhang Z, Ahariz N, Cambisano N, Jentsch TJ, Charlier C., Dis Model Mech. January 1, 2014; 7 (1): 119-28.  |
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High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance., Steffensen AB, Refaat MM, David JP, Mujezinovic A, Calloe K, Wojciak J, Nussbaum RL, Scheinman MM, Schmitt N., Sci Rep. January 12, 2015; 5 10009.  |
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Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart., El Tarazi A, Lussier Y, Da Cal S, Bissonnette P, Bichet DG., Sci Rep. September 19, 2016; 6 33298.  |
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Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia., Kariminejad A, Szenker-Ravi E, Lekszas C, Tajsharghi H, Moslemi AR, Naert T, Tran HT, Ahangari F, Rajaei M, Nasseri M, Haaf T, Azad A, Superti-Furga A, Maroofian R, Ghaderi-Sohi S, Najmabadi H, Abbaszadegan MR, Vleminckx K, Vleminckx K, Nikuei P, Reversade B., Am J Hum Genet. December 5, 2019; 105 (6): 1294-1301.  |
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LRR1-mediated replisome disassembly promotes DNA replication by recycling replisome components., Fan Y, Köberlin MS, Ratnayeke N, Liu C, Deshpande M, Gerhardt J, Meyer T., J Cell Biol. August 2, 2021; 220 (8): |
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Hnf1b renal expression directed by a distal enhancer responsive to Pax8., Goea L, Buisson I, Bello V, Eschstruth A, Paces-Fessy M, Le Bouffant R, Chesneau A, Cereghini S, Riou JF, Umbhauer M., Sci Rep. November 19, 2022; 12 (1): 19921.  |
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The structural mechanism of dimeric DONSON in replicative helicase activation., Cvetkovic MA, Passaretti P, Butryn A, Reynolds-Winczura A, Kingsley G, Skagia A, Fernandez-Cuesta C, Poovathumkadavil D, George R, Chauhan AS, Jhujh SS, Stewart GS, Gambus A, Costa A., Mol Cell. November 16, 2023; 83 (22): 4017-4031.e9.  |
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