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Literature for OMIM 118210: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1
Xenbase Articles:
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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2., Lassuthova P,Ravenscroft G,Lamont PJ,Davis MR,Feely SM,Bacon C,Brožková DŠ,Mazanec R,Tao F,Saghira C,Courel S,Powell E,Buglo E,Baxter MF,Ong RW,Marns L,Bai Y,Isom DG,Barro-Soria R,Scherer SS,Larsson HP,Laing NG,Seeman P,Shy ME,Santoro L,Rebelo AP,Manganelli F,Haberlova J,Abreu L,Bis DM,Lee YC,Lee YC,Chung KW,Choi BO,Zuchner S, Am J Hum Genet. March 1, 2018; 102(3):1537-6605. |