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Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females

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Description scientific article published on 2 October 2017
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author: Nikolas Pontikos  Augusto Rendon  Alison Hardcastle  Anthony Robson  Michael E. Cheetham  Alessia Fiorentino  Matthew O. Parker  Robert Henderson 

Publication date October 2, 2017
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