LitCoin-GeneOrGeneProduct-v0  

Documents (400) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 9294109 Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal 1.33 KB 2015-12-08 59 42 2021-12-20
PubMed 28584052 Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disab 1.87 KB 2018-12-27 58 54 2021-12-20
PubMed 24632946 Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malfor 2.11 KB 2019-09-23 56 61 2021-12-20
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 40 2021-12-20
PubMed 15184369 Ca2+ dependence of the Ca2+-selective TRPV6 channel. Microfluorimetry and patch-clamp experiments we 1.96 KB 2015-11-22 43 70 2021-12-20
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 41 2021-12-20
PubMed 1353340 Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new all 716 Bytes 2015-11-18 38 19 2021-12-20
PubMed 25054547 Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activi 1.95 KB 2016-01-19 36 52 2021-12-20
PubMed 17059986 A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial h 1.74 KB 2015-11-23 36 38 2021-12-20
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 40 2021-12-20