Documents (250) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PubMed	28747464	Lethal digenic mutations in the K(+) channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with seve	1.68 KB	2019-09-23	9	18	-
PubMed	27678121	Atopic Dermatitis Susceptibility Variants in Filaggrin Hitchhike Hornerin Selective Sweep. Human ski	1.7 KB	2019-09-23	12	5	-
PubMed	26494468	DNA damage-induced ephrin-B2 reverse signaling promotes chemoresistance and drives EMT in colorectal	1.78 KB	2019-09-23	16	18	-
PubMed	29323748	The gain-of-function mutation E76K in SHP2 promotes CAC tumorigenesis and induces EMT via the Wnt/β-	1.34 KB	2019-09-23	8	32	-
PubMed	28918368	GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type I	1.25 KB	2019-09-23	9	12	-
PubMed	28273450	ATR Mutations Promote the Growth of Melanoma Tumors by Modulating the Immune Microenvironment. Melan	837 Bytes	2019-09-23	9	16	-
PubMed	28921675	Altered Cav1.2 function in the Timothy syndrome mouse model produces ascending serotonergic abnormal	1.91 KB	2019-09-23	8	4	-
PubMed	29330547	Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La	1.55 KB	2019-09-23	8	12	-
PubMed	29064616	Gain-of-function HCN2 variants in genetic epilepsy. Genetic generalized epilepsy (GGE) is a common e	1.48 KB	2019-09-23	8	12	-
PubMed	28742244	Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalie	1.36 KB	2019-09-23	9	7	-