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  1. X-Linked Myotubular Myopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1432
    ... here . Joshua Frase Foundation PO Box 2041 Ponte Vedra Beach FL 32004 Phone: 904-607-1358 Fax: ... 2002 ] (see Table A , ClinVar ). The majority of changes identified represent rare variants, with the exception of ...