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Summary Expression Phenotypes Gene Literature (154) GO Terms (15) Nucleotides (1813) Proteins (60) Interactants (569) Wiki

Papers associated with atp1a1 (and OMIM)

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A revised mechanism of action of hyperaldosteronism-linked mutations in cytosolic domains of GIRK4 (KCNJ5)., Shalomov B, Handklo-Jamal R, Reddy HP, Theodor N, Bera AK, Dascal N., J Physiol. March 1, 2022; 600 (6): 1419-1437.

Deep learning is widely applicable to phenotyping embryonic development and disease., Naert T, Çiçek Ö, Ogar P, Bürgi M, Shaidani NI, Kaminski MM, Xu Y, Grand K, Vujanovic M, Prata D, Hildebrandt F, Brox T, Ronneberger O, Voigt FF, Helmchen F, Loffing J, Horb ME, Willsey HR, Lienkamp SS., Development. November 1, 2021; 148 (21):                                                                 

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2., Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S., Am J Hum Genet. March 1, 2018; 102 (3): 505-514.

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3., Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstädter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS., Nat Genet. August 1, 2013; 45 (8): 951-6.                                

Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation., Koenderink JB, Zifarelli G, Qiu LY, Schwarz W, De Pont JJ, Bamberg E, Friedrich T., Biochim Biophys Acta. May 15, 2005; 1669 (1): 61-8.

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