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Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three Chinese families
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创建时间：
2023-03-22
相关数据集
Additional file 2: of Functional relevance for central cornea thickness-associated genetic variants by using integrative analyses
Table S2. Summary of integrative annotation scores of CCT associated lead SNPs and variants in strong linkage-disequilibrium (LD) (r2â â Ľâ 0.8) with the lead SNPs, using CADD, GWAVA and Eigen tools.
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Structure of SALL4 zinc-finger domain reveals link between AT-rich DNA binding and Okihiro syndrome
Spalt-like 4 (SALL4) maintains vertebrate embryonic stem cell identity and is required for the development of multiple organs, including limbs. Mutations in SALL4 are associated with Okihiro syndrome
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Biallelic loss-of-function variants of ERBB3 associated with a novel multisystem syndrome without congenital contracture
Supplementary material Fig. S1, Table S1, S2, and S3
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Global publication trends in ophthalmic genetics and gene therapy research: A Scientometric analysis
ABSTRACT Objective: A scientometric analysis produced in ophthalmic genetics and gene therapy research is lacking. The purpose of this study is to present a holistic analysis of ophthalmic genetics l
NIAID Data Ecosystem90
Additional file 2: of Functional relevance for central cornea thickness-associated genetic variants by using integrative analyses
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
