Blood pooling experiments on ophthalmalogic phenotypes with Illumina arrays

ChEBI2009-08-08 更新2026-07-21 收录

眼科遗传学

基因芯片分析

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https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-17557 数据链接链接失效反馈

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Blood pooling experiments on ophthalmalogic phenotypes with Illumina arrays

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2009-08-08

Additional file 2: of Functional relevance for central cornea thickness-associated genetic variants by using integrative analyses

眼科遗传学

角膜疾病研究

Table S2. Summary of integrative annotation scores of CCT associated lead SNPs and variants in strong linkage-disequilibrium (LD) (r2ââĽâ0.8) with the lead SNPs, using CADD, GWAVA and Eigen tools

Figshare2018-08-16 更新40

Nature of polymorphisms and detection sensitivity of SFPs.

单核苷酸多态性

基因芯片分析

Values in parentheses indicate percentage of SFP detected/escaped by gene-chip. Table includes SFP data analyzed at estimated 9.5% FDR in CP&LG and 9% FDR in CP&RT dataset. CP = Cypress, LG = LaGrue,

NIAID Data Ecosystem30

Table_2_Compound Heterozygous COX20 Variants Impair the Function of Mitochondrial Complex IV to Cause a Syndrome Involving Ophthalmoplegia and Visual Failure.docx

线粒体疾病遗传

眼科遗传学

The cytochrome c oxidase 20 (COX20) gene encodes a protein with a crucial role in the assembly of mitochondrial complex IV (CIV). Mutations in this gene can result in ataxia and muscle hypotonia. Howe

NIAID Data Ecosystem20

Genotypic distribution of three polymorphisms of IL-10 in patients with PEX, PEXG, and POAG.xlsx

眼科遗传学

基因多态性分析

Genotypic distribution of three polymorphisms -592C/A (rs1800872), -819C/T (rs1800871) and -1082A/G (rs1800896) of IL-10 gene promoter in patients with pseudoexfoliation syndrome (PEX), pseudoexfoliat

Figshare2020-02-02 更新40

Ocular parameters of the study participants.

眼科遗传学

脉络膜血管定量

Purpose To investigate the heritability of genetic influence on macular choroidal vascularity index (CVI). Methods Total choroidal area (TCA), luminal area (LA), and CVI was measured using horizontal

NIAID Data Ecosystem20

Blood pooling experiments on ophthalmalogic phenotypes with Illumina arrays

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