Documents (500) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	16046395	Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. As a prima	1.52 KB	2015-11-19	49	4	-
PubMed	18470323	Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) g	2.08 KB	2015-11-24	38	5	-
PubMed	17059986	A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial h	1.74 KB	2015-11-23	36	4	-
PubMed	20846357	A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features o	1.9 KB	2015-11-25	35	5	-
PubMed	20143913	Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopo	1.09 KB	2015-11-25	35	3	-
PubMed	21325775	A novel apolipoprotein E mutation, ApoE Osaka (Arg158 Pro), in a dyslipidemic patient with lipoprote	1.68 KB	2015-11-26	35	1	-
PubMed	21903317	Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia,	1.65 KB	2015-11-26	35	2	-
PubMed	15609295	Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in t	1.39 KB	2015-11-18	34	2	-
PubMed	18046082	Identification of apolipoprotein E Guangzhou (arginine 150 proline), a new variant associated with l	1.6 KB	2015-11-23	34	2	-
PubMed	16781314	Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in t	1.02 KB	2015-11-19	34	1	-