Documents (939,769) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	20801540	Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel g	1.84 KB	2015-11-25	34	8	-
PubMed	18046082	Identification of apolipoprotein E Guangzhou (arginine 150 proline), a new variant associated with l	1.6 KB	2015-11-23	34	3	-
PubMed	20335448	A novel point mutation in helix 10 of the human glucocorticoid receptor causes generalized glucocort	1.96 KB	2015-11-25	34	9	-
PubMed	17951029	Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. BACKGROU	1.48 KB	2015-11-23	34	4	-
PubMed	17910065	A novel missense mutation in the paired domain of human PAX9 causes oligodontia. PAX9 and MSX1 are t	1.13 KB	2015-11-23	34	4	-
PubMed	16781314	Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in t	1.02 KB	2015-11-19	34	4	-
PubMed	15609295	Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in t	1.39 KB	2015-11-18	34	0	-
PubMed	15485686	A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tac	1.77 KB	2015-11-19	34	8	-
PubMed	20534762	Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undete	1.82 KB	2016-01-02	33	6	-
PubMed	16005363	Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome.	909 Bytes	2015-11-19	33	4	-