test-210614

Documents (6,002) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	18385794	Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with	2.22 KB	2015-11-24	29	3	2024-01-05
PubMed	29224215	Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse. BACKGROUND:	1.42 KB	2019-09-23	29	9	2024-01-05
PubMed	30038024	Mice harboring the human SLC30A8 R138X loss-of-function mutation have increased insulin secretory ca	998 Bytes	2019-09-23	29	0	-
PubMed	16277682	Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's	1.92 KB	2015-08-06	28	7	2024-01-05
PubMed	28749435	Allelic Complexity in Long QT Syndrome: A Family-Case Study. Congenital long QT syndrome (LQTS) is a	1.47 KB	2019-09-23	28	10	2024-01-05
PubMed	27840894	Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets. Inactivat	1.76 KB	2017-09-04	27	1	2024-01-05
PubMed	25488663	A revised mechanism for the activation of complement C3 to C3b: a molecular explanation of a disease	1.69 KB	2016-01-22	27	5	2024-01-05
PubMed	25599653	Differential reprogramming of isogenic colorectal cancer cells by distinct activating KRAS mutations	1.28 KB	2016-01-20	26	4	2024-01-05
PubMed	18252712	Structure of the N-terminal region of complement factor H and conformational implications of disease	1.71 KB	2015-11-23	26	1	2024-01-05
PubMed	28411266	Genetic Variation at the Sulfonylurea Receptor, Type 2 Diabetes, and Coronary Heart Disease. Despite	1.51 KB	2017-08-29	26	3	2024-01-05