PubTator4TogoVar  

Documents (66,076) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 24886653 Analysis of rare variations reveals roles of amino acid residues in the N-terminal extracellular dom 2.73 KB 2017-02-10 4 49 2024-01-10
PubMed 10960497 Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase ge 2.01 KB 2015-11-21 3 36 2024-01-10
PubMed 30050108 Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China. M 1.73 KB 2023-11-03 11 34 2024-01-10
PubMed 29218063 Analysis of the Most Common Three MEFV Mutations in 630 Patients with Familial Mediterranean Fever i 1.78 KB 2024-01-10 1 33 2024-01-10
PubMed 22045060 Quaternary structural parameters of the congenital cataract causing mutants of αA-crystallin. Pediat 1.73 KB 2016-01-02 4 31 2024-01-10
PubMed 16979952 The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochroma 2.03 KB 2018-10-10 2 31 2024-01-10
PubMed 10084598 The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Ca 1.89 KB 2015-11-05 3 29 2024-01-10
PubMed 30037505 Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabo 1.53 KB 2024-01-10 1 29 2024-01-10
PubMed 10575540 Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutatio 2.08 KB 2015-11-15 5 28 2024-01-10
PubMed 31669572 Differential effects of variations in human P450 oxidoreductase on the aromatase activity of CYP19A1 3.09 KB 2024-01-10 1 28 2024-01-10