Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe

Ohad Wormser, Libe Gradstein, Einat Kadar, Yuval Yogev, Yonatan Perez, Elena Mashkit, Khalil Elbedour, Max Drabkin, Barak Markus, Rotem Kadir, Daniel Halperin, Soltan Khalaila, Jaime Levy, Tova Lifshitz, Esther Manor, Ohad S. Birk

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

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Biochemistry, Genetics and Molecular Biology