Documents (2,594) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
PMC	4820811	FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated pr	67.5 KB	2020-09-16	3	248	-
PMC	4517778	CSB-PGBD3 Mutations Cause Premature Ovarian Failure Whole Exome Sequencing to Investigate Causative	31.9 KB	2020-09-16	3	337	-
PMC	4109005	Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome	21.9 KB	2020-09-16	3	127	-
PMC	4240195	Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is prim	25.9 KB	2020-09-16	3	417	-
PMC	4228047	PrimPol Bypasses UV Photoproducts during Eukaryotic Chromosomal DNA Replication Abstract Summary D	24.4 KB	2020-09-16	3	225	-
PMC	5393145	Mutations in MSH5 in primary ovarian insufficiency Abstract Abstract Primary ovarian insufficiency	16 KB	2020-09-16	3	217	-
PMC	5418834	Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentiall	33.1 KB	2020-09-16	3	251	-
PMC	4091492	A Novel Cytosolic Isoform of Mitochondrial Trans-2-Enoyl-CoA Reductase Enhances Peroxisome Prolifera	18.6 KB	2020-09-16	4	482	-
PMC	4216188	Pen-2 Is Essential for γ-Secretase Complex Stability and Trafficking but Partially Dispensable for E	51.6 KB	2020-09-16	3	430	-
PMC	4870680	Heat Shock Factor 1 Mediates Latent HIV Reactivation Abstract HSF1, a conserved heat shock factor,	32.7 KB	2020-09-16	3	210	-