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From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases

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Description scientific article published on 13 July 2016
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author: Alan R. Shuldiner  Christina G Tise  Laura M Yerges-Armstrong  Mary A Pavlovich  James A Perry  Leslie E Anforth  Joshua D Backman 

Publication date September 8, 2016
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