LitCoin-Disease-MeSH  

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 4 2021-12-22
PubMed 16046395 Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. As a prima 1.52 KB 2015-11-19 48 3 2021-12-22
PubMed 28584052 Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disab 1.87 KB 2018-12-27 45 3 2021-12-22
PubMed 15184369 Ca2+ dependence of the Ca2+-selective TRPV6 channel. Microfluorimetry and patch-clamp experiments we 1.96 KB 2015-11-22 42 0 2021-12-22
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 2021-12-22
PubMed 25054547 Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activi 1.95 KB 2016-01-19 36 3 2021-12-22
PubMed 1353340 Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new all 716 Bytes 2015-11-18 36 6 2021-12-22
PubMed 17059986 A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial h 1.74 KB 2015-11-23 36 19 2021-12-22
PubMed 21903317 Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia, 1.65 KB 2015-11-26 35 20 2021-12-22
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 15 2021-12-22