相关数据集
StoneRounds Case: SR42
StoneRounds Case SR42 was diagnosed with Pattern Dystrophy likely caused by mutations in the gene: PRPH2.
DataCite Commons2021-06-11 更新70
Candidate genes for FECD and related diseases of the cornea.
The columns FECD and CCT indicate whether genes have been implicated in Fuchs dystrophy and central corneal thickness, respectively. The effects on CCT are those for rare (variant) alleles; “Increased
Figshare2015-12-02 更新40
Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog
PurposeMutations in ADAMTS10 (CFA20) have previously been associated with primary open angle glaucoma (POAG) in the Beagle and Norwegian Elkhound. The closely related gene, ADAMTS17, has also been ass
Figshare2016-01-15 更新20
ena-DATASET-SC-03-08-2017-09:36:11:229-1558 - samples
HipSci - Retinitis Pigmentosa - Exome Sequencing - July 2017EGA dataset EGAD00001003527
NIAID Data Ecosystem60
Data_Sheet_1_The Metabolic Reprogramming of Frem2 Mutant Mice Embryos in Cryptophthalmos Development.docx
BackgroundCryptophthalmos is characterized by congenital ocular dysplasia with eyelid malformation. The pathogenicity of mutations in genes encoding components of the FRAS1/FREM protein complex is wel
NIAID Data Ecosystem30
