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2011
Pierson, Tyler Mark, Adams, David, Bonn, Florian, Martinelli, Paola, Cherukuri, Praveen F., Teer, Jamie K., Hansen, Nancy F., Cruz, Pedro, Mullikin, James C., Blakesley, Robert W., Golas, Gretchen, Kwan, Justin, Sandler, Anthony 
ORCID: 0000-0001-9440-2964, Fajardo, Karin Fuentes, Markello, Thomas, Tifft, Cynthia, Blackstone, Craig, Rugarli, Elena I., Langer, Thomas ORCID: 0000-0003-1250-1462, Gahl, William A. and Toro, Camilo
(2011).
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases.
PLoS Genet., 7 (10).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1553-7390