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XB--985558
Papers associated with kcnh1 (and OMIM)
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Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy., Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ., Nat Genet. January 1, 2015; 47 (1): 73-7. |
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Impaired ion channel function related to a common KCNQ1 mutation - implications for risk stratification in long QT syndrome 1., Aidery P, Kisselbach J, Schweizer PA, Becker R, Katus HA, Thomas D., Gene. December 10, 2012; 511 (1): 26-33. |
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A recombinant N-terminal domain fully restores deactivation gating in N-truncated and long QT syndrome mutant hERG potassium channels., Gustina AS, Trudeau MC., Proc Natl Acad Sci U S A. August 4, 2009; 106 (31): 13082-7. |
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