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disease: Emery-Dreifuss muscular dystrophy 4, autosomal dominant

id6693
nameEmery-Dreifuss muscular dystrophy 4, autosomal dominant
variant-disease NM_182961.4(SYNE1):c.25159G>T (p.Val8387Leu) AND Emery-Dreifuss muscular dystrophy 4, autosomal dominant
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) AND Emery-Dreifuss muscular dystrophy 4, autosomal dominant
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) AND Emery-Dreifuss muscular dystrophy 4, autosomal dominant
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter) AND Emery-Dreifuss muscular dystrophy 4, autosomal dominant
NM_182961.4(SYNE1):c.23461-1G>A AND Emery-Dreifuss muscular dystrophy 4, autosomal dominant
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