LitCoin-SeqVar

Documents (400) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	24632946	Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malfor	2.11 KB	2019-09-23	56	0	2021-12-16
PubMed	16046395	Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. As a prima	1.52 KB	2015-11-19	47	4	2021-12-16
PubMed	28584052	Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disab	1.87 KB	2018-12-27	43	4	2021-12-16
PubMed	15184369	Ca2+ dependence of the Ca2+-selective TRPV6 channel. Microfluorimetry and patch-clamp experiments we	1.96 KB	2015-11-22	41	2	2021-12-16
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	2021-12-16
PubMed	1353340	Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new all	716 Bytes	2015-11-18	36	0	2021-12-16
PubMed	17059986	A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial h	1.74 KB	2015-11-23	36	4	2021-12-16
PubMed	25054547	Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activi	1.95 KB	2016-01-19	36	10	2021-12-16
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	2021-12-16
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	2021-12-16