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Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene

Wayne M. Jepsen, Andrew Fazenbaker,Keri Ramsey,Anna Bonfitto,Marcus Naymik,Bryce Turner, Jennifer Sloan,Nishant Tiwari,Saunder M. Bernes,Derek E. Neilson,Meredith Sanchez-Castillo,Matt J. Huentelman,Vinodh Narayanan

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES（2024）

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关键词
Duchenne muscular dystrophy,DMD,rare disorders,WGS
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