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4. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Sambuughin N; Yau KS; Olivé M; Duff RM; Bayarsaikhan M; Lu S; Gonzalez-Mera L; Sivadorai P; Nowak KJ; Ravenscroft G; Mastaglia FL; North KN; Ilkovski B; Kremer H; Lammens M; van Engelen BG; Fabian V; Lamont P; Davis MR; Laing NG; Goldfarb LG Am J Hum Genet; 2010 Dec; 87(6):842-7. PubMed ID: 21109227 [TBL] [Abstract][Full Text] [Related]
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