Documents (2,594) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PMC	1183529	Fog2 Is Required for Normal Diaphragm and Lung Development in Mice and Humans Fog2 Required for Diap	33.3 KB	2020-10-02	10	431	-
PMC	1892049	Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans ITPR1 Deletion Ca	32 KB	2020-10-02	10	299	-
PMC	3905285	Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for	31.6 KB	2020-09-14	5	565	-
PMC	2668026	Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and A	15.9 KB	2020-09-15	5	260	-
PMC	3432770	Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity R	55.9 KB	2020-09-16	5	244	-
PMC	2171568	Specific integrin α and β chain phosphorylations regulate LFA-1 activation through affinity-dependen	50.2 KB	2020-09-15	5	240	-
PMC	2681008	Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in	14.6 KB	2020-09-15	5	306	-
PMC	3033517	Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females A	35.9 KB	2020-09-15	5	275	-
PMC	5026821	Spectrum of PEX1 and PEX6 variants in Heimler syndrome PEX1 and PEX6 variants in Heimler syndrome	26.6 KB	2020-09-15	5	231	-
PMC	3281774	Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspe	18.4 KB	2020-09-15	5	468	-