Documents (2,594) JSON TSV

source DB	source ID	text	size	updated at	# proj.	# Ann.	updated_at
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	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	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	2694971	Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 C	25.8 KB	2025-10-02	7	320	-
PMC	3324356	Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients Abstract Purp	14.6 KB	2020-09-15	7	465	-
PMC	2681008	Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in	14.6 KB	2025-10-02	7	306	-
PMC	4600830	Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human	29.9 KB	2020-09-16	7	347	-
PMC	2775821	Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfec	15.5 KB	2025-10-02	7	411	-
PMC	5026821	Spectrum of PEX1 and PEX6 variants in Heimler syndrome PEX1 and PEX6 variants in Heimler syndrome	26.6 KB	2025-10-02	7	231	-
PMC	4419340	Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis Inherited IL-17RC de	39 KB	2020-09-16	6	220	-