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Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration

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Description scientific article published on 31 March 2014
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author: Carmen Ayuso  Marta Cortón  Silvio Alessandro Di Gioia  Pedro J Garcia Ruiz  Lies H. Hoefsloot  Carlo Rivolta 

Publication date March 31, 2014
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