id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_vec7md4gfna2zpib4hds5i3nnq	Christina G. Tise	From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases	2016.0		.pdf	text/html	1054	205	64	[PDF] From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases | Semantic Scholar Corpus ID: 11539301From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases title={From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases}, journal={G3: Genes|Genomes|Genetics}, 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. Human SLC26A1 Gene Variants: A Pilot Study Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License	./cache/work_vec7md4gfna2zpib4hds5i3nnq.pdf	./txt/work_vec7md4gfna2zpib4hds5i3nnq.txt