Cataract transcriptome reveals gene changes leading to rare genetic disease diagnosis
收藏NIAID Data Ecosystem2026-04-30 收录
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资源简介：
The genetic diagnosis for a pediatric female patient with bilateral congenital total cataracts, poikiloderma, alopecia, and microdontia was obtained by a combination of RNA-seq analyses performed on the patient cataract lens (CLe), against an age-matched normal donor lens (Le), together with further analysis of the whole exome sequence (WES) raw data.
创建时间：
2021-12-12
