LitCoin-SeqVar

Documents (400) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	20335448	A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocorticoid resistance by disrupting the structure of the ligand-binding domain. CONTEXT: Generalized gluc	1.96 KB	2015-11-25	34	1	2021-12-16
PubMed	18366737	The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BACKGROUND: Fumarate hydratase (HGNC approv	2.43 KB	2015-11-24	26	0	2021-12-16
PubMed	10491763	Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion. AIMS/HYPOTHESIS: The transcription factor	1.81 KB	2015-11-15	28	2	2021-12-16
PubMed	20621845	Elevation of ADAM10, ADAM17, MMP-2 and MMP-9 expression with media degeneration features CaCl2-induced thoracic aortic aneurysm in a rat model. PURPOSE: This study was designed to establish a rat mode	1.82 KB	2016-01-07	41	0	2021-12-16
PubMed	19394258	The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Deoxyguanosine kinase (dGK) deficiency is a frequent cause of mitochondrial DNA depletion associat	1.57 KB	2015-11-25	29	1	2021-12-16
PubMed	19207031	Growth hormone dose in growth hormone-deficient adults is not associated with IGF-1 gene polymorphisms. AIMS: Several SNPs and a microsatellite cytosine-adenine repeat promoter polymorphism of the IGF	1.8 KB	2025-10-02	27	1	2021-12-16
PubMed	24477591	The -930A>G polymorphism of the CYBA gene is associated with premature coronary artery disease. A case-control study and gene-risk factors interactions. Reactive oxygen species (ROS) are involved in t	1.69 KB	2015-11-26	27	12	2021-12-16
PubMed	19891556	Clopidogrel pharmacogenomics and risk of inadequate platelet inhibition: US FDA recommendations. Antiplatelet therapy with clopidogrel is the current standard of care for coronary artery disease patie	1.12 KB	2021-11-28	23	0	2021-12-16
PubMed	8755918	Mutations associated with variant phenotypes in ataxia-telangiectasia. We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less sever	1.31 KB	2015-11-27	49	1	2021-12-16
PubMed	16252083	Polymorphisms of the DNA mismatch repair gene HMSH2 in breast cancer occurence and progression. The response of the cell to DNA damage and its ability to maintain genomic stability by DNA repair are c	1.62 KB	2015-11-19	28	4	2021-12-16