Documents (500) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	19048115	Neurofibromin 1 (NF1) defects are common in human ovarian serous carcinomas and co-occur with TP53 mutations. Ovarian serous carcinoma (OSC) is the most common and lethal histologic type of ovarian ep	1.67 KB	2015-11-24	28	0	-
PubMed	15818664	Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracel	2.28 KB	2015-11-19	10	0	-
PubMed	15820770	Vitamin D-binding protein gene polymorphism association with IA-2 autoantibodies in type 1 diabetes. BACKGROUND: Vitamin D-binding protein (DBP) is the main systemic transporter of 1.25(OH)2D3 and is	1.43 KB	2015-11-19	26	2	-
PubMed	22016685	A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency. Factor XI (FXI) deficiency is a rare autosomal recessive coagulation diso	1.34 KB	2015-11-26	10	4	-
PubMed	21850008	Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.	1.51 KB	2016-01-07	10	10	-
PubMed	22104738	Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria. A 3-year-old Chinese boy presented with prominent clinical features of malonic aciduria, including development	813 Bytes	2016-01-03	11	3	-
PubMed	22295085	Genetic and epigenetic alterations of the NF2 gene in sporadic vestibular schwannomas. BACKGROUND: Mutations in the neurofibromatosis type 2 (NF2) tumor-suppressor gene have been identified in not onl	1.59 KB	2015-11-26	5	0	-
PubMed	22174939	RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients. Rare (RVs) and common variants of the RET gene contribute to Hirschsprung disease (HSCR; congenital aganglionosis).	1.4 KB	2016-01-05	4	0	-
PubMed	21943124	A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome. BACKGROUND: Signalling by fibroblast growth factor receptor type 2 (FGFR2) normally involves a tissue-specific al	1.42 KB	2015-11-26	11	0	-
PubMed	21779184	Detection of α-thalassemia-1 Southeast Asian and Thai type deletions and β-thalassemia 3.5-kb deletion by single-tube multiplex real-time PCR with SYBR Green1 and high-resolution melting analysis. BAC	1.63 KB	2015-11-26	3	0	-