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bibliographicCitation Ozelsancak R, Uyar B. p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease. Am J Case Rep. 2016 May 09;17():315–9. PMID: 27156739; PMCID: PMC4913751.
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title p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease
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