Documents (787) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	10192393	A common human skin tumour is caused by activating mutations in beta-catenin. WNT signalling orchest	1.72 KB	2015-10-29	6	14	-
PubMed	10194428	HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form o	1.29 KB	2015-11-17	6	13	-
PubMed	10196379	Germline BRCA1 alterations in a population-based series of ovarian cancer cases. The objective of th	1.56 KB	2015-11-15	6	12	-
PubMed	10021369	Identification of APC2, a homologue of the adenomatous polyposis coli tumour suppressor. The adenoma	1.07 KB	2019-12-21	7	5	-
PubMed	100562	Familial deficiency of the seventh component of complement associated with recurrent bacteremic infe	1.43 KB	2015-11-02	10	12	-
PubMed	10078749	GCH1 mutation in a patient with adult-onset oromandibular dystonia. The authors report a mutation in	417 Bytes	2015-11-02	12	5	-
PubMed	10085150	The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake	2.1 KB	2015-11-02	19	4	-
PubMed	10090880	Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships an	1.64 KB	2015-11-06	6	9	-
PubMed	10090885	Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Autoimmu	1.73 KB	2015-11-02	5	10	-
PubMed	10190819	Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-link	2.59 KB	2015-11-17	3	22	-