Documents (31,966) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	10073265	Genetics of hemochromatosis. Hereditary hemochromatosis (HHC) is a common autosomal recessive disord	746 Bytes	2015-11-03	4	5	-
PubMed	10075926	Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor in	1.51 KB	2015-11-02	6	3	-
PubMed	10076558	Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the same allele i	966 Bytes	2015-11-03	6	3	-
PubMed	10076877	Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary ca	961 Bytes	2015-11-02	12	3	-
PubMed	10077612	Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. To better und	1.24 KB	2015-11-02	6	43	-
PubMed	10078568	Identification and functional analysis of novel human melanocortin-4 receptor variants. Inactivation	1.22 KB	2015-11-02	6	5	-
PubMed	10078973	Synaptic transmission and hippocampal long-term potentiation in transgenic mice expressing FAD-linke	1.51 KB	2015-11-04	4	3	-
PubMed	10079245	LKB1 somatic mutations in sporadic tumors. Germline mutations of LKB1/Peutz-Jeghers syndrome gene pr	1.73 KB	2015-11-02	6	3	-
PubMed	10086344	Mutations of c-kit JM domain are found in a minority of human gastrointestinal stromal tumors. The c	1.77 KB	2015-10-29	6	14	-
PubMed	10087990	Transferrin receptor mutation analysis in hereditary hemochromatosis patients. The Cys282-->Tyr muta	1.24 KB	2015-11-02	5	3	-