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Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review Por Umamaheswaran Gurusamy, Swetha Ramadesikan, Mohammad Marhabaie, Caitlyn M. Colwell, Jesse M. Hunter, Jesse M. Hunter, Jesse M. Hunter, Marco L. Leung, Marco L. Leung, Marco L. Leung, Elaine R. Mardis, Elaine R. Mardis, Peter White, Peter White, Murugu Manickam, Murugu Manickam, Richard K. Wilson, Richard K. Wilson, Daniel C. Koboldt, Daniel C. Koboldt
Publicado em 2024-01-01
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Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes Por Iftekhar A. Showpnil, Maria E. Hernandez Gonzalez, Swetha Ramadesikan, Mohammad Marhabaie, Allison Daley, Leeran Dublin-Ryan, Matthew T. Pastore, Umamaheswaran Gurusamy, Jesse M. Hunter, Brandon S. Stone, Dennis W. Bartholomew, Kandamurugu Manickam, Anthony R. Miller, Richard K. Wilson, Rolf W. Stottmann, Daniel C. Koboldt
Publicado em 2024-12-01
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