Article
From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.
G3 (Bethesda, Md.) - 8 Sept 2016
Tise Christina G, Perry James A, Anforth Leslie E, Pavlovich Mary A, Backman Joshua D, Ryan Kathleen A, Lewis Joshua P, O'Connell Jeffrey R, Yerges-Armstrong Laura M, Shuldiner Alan R
Abstract excerpt
Using genomic applications to glean insights into human biology, we systematically searched for nonsense single nucleotide variants (SNVs) that are rare in the general population but enriched in the Old Order Amish (Amish) due to founder effect. We identified two nonlinked, nonsense SNVs (R12X and W48X) in SLC13A1 (allele frequencies 0.29% and 0.74% in the Amish; enriched 1.2-fold and 3.7-fold, compared to the...
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