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Summary Expression Gene Literature (215) GO Terms (4) Nucleotides (125) Proteins (27) Interactants (764) Wiki
XB--1011225

Papers associated with mmut (and Disease Ontology)

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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. January 1, 2019; 105 (6): 1294-1301.        


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. January 1, 2016; 6 33298.            


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. September 21, 2015; 5 10009.              


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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