Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

Tyler Mark Pierson, David A. Adams, Thomas Markello, Gretchen Golas, Sandra Yang, Murat Sincan, Dimitre R. Simeonov, Karin Fuentes Fajardo, Nancy F. Hansen, Praveen F. Cherukuri, Pedro Cruz, Jamie K. Teer, James C. Mullikin, Cornelius F. Boerkoel, William A. Gahl, Cynthia J. Tifft

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21 Scopus citations

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Medicine & Life Sciences