LitCoin-SeqVar

Documents (400) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	14722929	Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants. A lar	1.71 KB	2015-11-22	25	29	2021-12-16
PubMed	15770495	New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase def	1.78 KB	2015-11-19	26	21	2021-12-16
PubMed	15069170	Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with G	1.81 KB	2015-11-22	25	18	2021-12-16
PubMed	15749661	Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with h	1.64 KB	2015-11-19	28	14	2021-12-16
PubMed	20534142	Association of obesity risk SNPs in PCSK1 with insulin sensitivity and proinsulin conversion. BACKGR	2.02 KB	2015-11-25	29	14	2021-12-16
PubMed	21615796	Interleukin-17F gene polymorphism in patients with chronic immune thrombocytopenia. INTRODUCTION: IL	1.37 KB	2015-11-26	29	14	2021-12-16
PubMed	20523265	Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a	2.3 KB	2015-11-25	29	13	2021-12-16
PubMed	27840894	Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets. Inactivat	1.76 KB	2017-09-04	27	13	2021-12-16
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	12	2021-12-16
PubMed	24477591	The -930A>G polymorphism of the CYBA gene is associated with premature coronary artery disease. A ca	1.69 KB	2015-11-26	27	12	2021-12-16