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Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari i malformation
Daniel Duran, Sheng Chih Jin, Tyrone Despenza, Carol Nelson-Williams, Andrea G. Cogal, Elizabeth W. Abrash, Peter C. Harris, John C. Lieske, Serena J.E. Shimshak, Shrikant Mane, Kaya Bilguvar, Michael L. Diluna, Murat Günel, Richard P. Lifton, Kristopher T. Kahle
- Department of Genetics
- Roy and Diana Vagelos Division of Biology & Biomedical Sciences (DBBS)
- Institute of Clinical and Translational Sciences
- NeuroGenomics and Informatics Center
- Center of Regenerative Medicine
- DBBS - Computational and Systems Biology
- DBBS - Neurosciences
- DBBS - Human and Statistical Genetics
- DBBS - Molecular Genetics and Genomics
- Hope Center for Neurological Disorders
Research output: Contribution to journal › Article › peer-review
8
Scopus
citations