Documents (100) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	8621452	Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gl	1.14 KB	2015-12-05	52	4	-
PubMed	8755918	Mutations associated with variant phenotypes in ataxia-telangiectasia. We have identified 14 familie	1.31 KB	2015-11-27	49	8	-
PubMed	8944024	Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colou	1.02 KB	2015-03-12	46	1	-
PubMed	8625410	Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin po	1.03 KB	2015-11-27	37	4	-
PubMed	9019400	The TSG101 tumor susceptibility gene is located in chromosome 11 band p15 and is mutated in human br	918 Bytes	2015-11-27	37	7	-
PubMed	8689689	Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Anirid	983 Bytes	2015-11-27	37	4	-
PubMed	8931695	Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. Mutation	1.82 KB	2015-11-27	35	18	-
PubMed	8674108	The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse. Mutat	1.11 KB	2015-12-05	35	2	-
PubMed	8659522	Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gen	1.86 KB	2015-11-27	33	9	-
PubMed	8954016	Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartom	2.01 KB	2015-11-27	33	17	-