Documents (500) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	12820697	Mutation analysis of SLC7A9 in cystinuria patients in Sweden. Cystinuria is an autosomal recessive d	1.91 KB	2015-11-17	4	7	-
PubMed	19592582	Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into	1.38 KB	2015-11-25	10	6	-
PubMed	16379540	Indirect CFTR mutation identification by PCR/OLA anomalous electropherograms. Mutations of CFTR gene	1.35 KB	2015-11-19	5	4	-
PubMed	17395743	Identification of PVT1 as a candidate gene for end-stage renal disease in type 2 diabetes using a po	1.54 KB	2025-10-02	47	3	-
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	44	7	-
PubMed	19808398	Molecular and clinical characterization of a novel SCN5A mutation associated with atrioventricular b	1.87 KB	2015-11-25	5	4	-
PubMed	17628794	Manganese superoxide dismutase (Mn-SOD) gene polymorphisms in urolithiasis. Polymorphism in manganes	1.5 KB	2015-11-23	27	0	-
PubMed	18189233	RNASEL and RNASEL-inhibitor variation and prostate cancer risk in Afro-Caribbeans. BACKGROUND: Afro-	1.74 KB	2015-11-23	28	6	-
PubMed	18827003	A novel point mutation in the amino terminal domain of the human glucocorticoid receptor (hGR) gene	1.77 KB	2015-08-06	2	6	-
PubMed	21546516	The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription	1.51 KB	2015-11-26	5	0	-