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Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.
Hunter, Jesse M; Ahearn, Mary Ellen; Balak, Christopher D; Liang, Winnie S; Kurdoglu, Ahmet; Corneveaux, Jason J; Russell, Megan; Huentelman, Matthew J; Craig, David W; Carpten, John; Coons, Stephen W; DeMello, Daphne E; Hall, Judith G; Bernes, Saunder M; Baumbach-Reardon, Lisa.
Afiliación
  • Hunter JM; Integrated Cancer Genomics, Translational Genomics Research Institute (TGen) Phoenix, Arizona.
  • Ahearn ME; Integrated Cancer Genomics, Translational Genomics Research Institute (TGen) Phoenix, Arizona.
  • Balak CD; Integrated Cancer Genomics, Translational Genomics Research Institute (TGen) Phoenix, Arizona.
  • Liang WS; Collaborative Sequencing Center, Translational Genomics Research Institute (TGen) Phoenix, Arizona.
  • Kurdoglu A; Center for Bioinformatics, Translational Genomics Research Institute (TGen) Phoenix, Arizona.
  • Corneveaux JJ; Neurogenomics, Translational Genomics Research Institute (TGen) Phoenix, Arizona.
  • Russell M; Center for Bioinformatics, Translational Genomics Research Institute (TGen) Phoenix, Arizona.
  • Huentelman MJ; Neurogenomics, Translational Genomics Research Institute (TGen) Phoenix, Arizona.
  • Craig DW; Neurogenomics, Translational Genomics Research Institute (TGen) Phoenix, Arizona.
  • Carpten J; Integrated Cancer Genomics, Translational Genomics Research Institute (TGen) Phoenix, Arizona.
  • Coons SW; Section of Neuropathology, Barrow Neurological Institute Phoenix, Arizona.
  • DeMello DE; Division of Neurology, Phoenix Children's Hospital Phoenix, Arizona.
  • Hall JG; Departments of Medical Genetics and Pediatrics, University of British Columbia Vancouver, British Columbia, Canada.
  • Bernes SM; Division of Neurology, Phoenix Children's Hospital Phoenix, Arizona.
  • Baumbach-Reardon L; Integrated Cancer Genomics, Translational Genomics Research Institute (TGen) Phoenix, Arizona.
Mol Genet Genomic Med ; 3(4): 283-301, 2015 Jul.
Article en En | MEDLINE | ID: mdl-26247046

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Mol Genet Genomic Med Año: 2015 Tipo del documento: Article Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Mol Genet Genomic Med Año: 2015 Tipo del documento: Article Pais de publicación: Estados Unidos