test-210614

Documents (6,002) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
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	4	2024-01-05
PubMed	26586530	Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosom	2.04 KB	2019-09-23	38	2	2024-01-05
PubMed	25054547	Characterization of a novel BCHE "silent" allele: point mutation (p.Val204Asp) causes loss of activi	1.95 KB	2016-01-19	36	4	2024-01-05
PubMed	22989750	Allele specific gain-of-function activity of p53 mutants in lung cancer cells. p53 mutations are mos	1.41 KB	2019-09-23	35	2	2024-01-05
PubMed	28011069	Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate	1.98 KB	2019-09-23	35	1	2024-01-05
PubMed	24344137	The hypertrophic cardiomyopathy myosin mutation R453C alters ATP binding and hydrolysis of human car	1.54 KB	2015-11-26	31	0	-
PubMed	28783725	A Braf kinase-inactive mutant induces lung adenocarcinoma. The initiating oncogenic event in almost	1.84 KB	2019-09-23	30	2	2024-01-05
PubMed	25589620	Pharmacogenetic Analysis of INT 0144 Trial: Association of Polymorphisms with Survival and Toxicity	1.95 KB	2016-01-18	30	2	2024-01-05
PubMed	28597146	Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency. Germline heterozygous gain-of-	2.32 KB	2019-09-23	30	3	2024-01-05
PubMed	24942733	Arsenite stress down-regulates phosphorylation and 14-3-3 binding of leucine-rich repeat kinase 2 (L	1.25 KB	2016-01-16	30	1	2024-01-05