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Accession IconSRP173817

Cataract transcriptome reveals gene changes leading to rare genetic disease diagnosis

Organism Icon Homo sapiens
Sample Icon 2 Downloadable Samples
Technology Badge IconIllumina HiSeq 2500

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Description
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.
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