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	2025-10-02	11	299	-
PMC	4337967	A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation Abstract SQSTM1 mut	11.4 KB	2020-09-15	3	161	-
PMC	3873243	Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated wit	58.3 KB	2020-09-16	5	591	-
PMC	3535370	HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for P	21.4 KB	2025-10-02	7	493	-
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	3905285	Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for	31.6 KB	2020-09-14	5	565	-
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	-
PMC	55343	Major genomic mitochondrial lineages delineate early human expansions Abstract Background The phyl	16.6 KB	2020-09-16	3	220	-