Documents (100) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	9554743	Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean pat	762 Bytes	2015-11-27	27	3	-
PubMed	9563950	Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Myotonic dystrophy	875 Bytes	2015-03-12	23	7	-
PubMed	9580132	Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophys	1.23 KB	2015-11-27	28	5	-
PubMed	9585583	Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Thirty-two unrel	1.41 KB	2015-11-27	26	4	-
PubMed	9585605	Mutation analysis of UBE3A in Angelman syndrome patients. Angelman syndrome (AS) is caused by chromo	1.17 KB	2015-11-27	25	7	-
PubMed	9585606	The hemochromatosis 845 G-->A and 187 C-->G mutations: prevalence in non-Caucasian populations. Hemo	1.63 KB	2015-12-05	24	4	-
PubMed	9585611	Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Germ-line mutations of the	1.61 KB	2015-11-27	25	16	-
PubMed	9590178	Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression.	922 Bytes	2015-11-28	36	3	-
PubMed	9590284	A mouse model for Prader-Willi syndrome imprinting-centre mutations. Imprinting in the 15q11-q13 reg	1.04 KB	2015-11-28	25	7	-
PubMed	9600235	Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderanc	1.53 KB	2015-11-27	25	5	-