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

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Description scientific article published on 04 December 2018
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author: Max Drabkin  Ohad Wormser  Yuval Yogev  Ohad Birk  Daniel Halperin 

Publication date December 4, 2018
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