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

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

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 W...

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Bibliographic Details
Main Authors: Christina G. Tise, James A. Perry, Leslie E. Anforth, Mary A. Pavlovich, Joshua D. Backman, Kathleen A. Ryan, Joshua P. Lewis, Jeffrey R. O’Connell, Laura M. Yerges-Armstrong, Alan R. Shuldiner
Format: Article
Language:English
Published: Oxford University Press 2016-09-01
Series:G3: Genes, Genomes, Genetics
Subjects:
SLC13A1
serum sulfate
loss-of-function variants
Old Order Amish
GWAS/ExWAS
Online Access:http://g3journal.org/lookup/doi/10.1534/g3.116.032979

Internet

http://g3journal.org/lookup/doi/10.1534/g3.116.032979

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