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bibliographicCitation Maselli RA, Arredondo J, Nguyen J, Lara M, Ng F, Ngo M, Pham JM, Yi Q, Stajich JM, McDonald K, Hauser MA, Wollmann RL. Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb‐girdle myasthenia. Clinical Genetics. 2013 Mar 11;85(2):166–71. doi: 10.1111/cge.12118.
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title Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb‐girdle myasthenia
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