Documents (939,769) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	20143913	Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopo	1.09 KB	2015-11-25	35	0	-
PubMed	21903317	Autosomal dominant mutation in the signal peptide of renin in a kindred with anemia, hyperuricemia,	1.65 KB	2015-11-26	35	12	-
PubMed	1709636	A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant o	1.05 KB	2017-09-11	34	0	-
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	-