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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Genetics Society of America 2016
Materias:
Investigations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015947/
https://www.ncbi.nlm.nih.gov/pubmed/27412988
http://dx.doi.org/10.1534/g3.116.032979

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