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        Nc2Eye

           A curated ncRNAomics knowledgebase for bridging basic and clinical research in eye diseases.

Detail of Volkmann cataract
ncRNA name RP1-140A9.1
ncRNA Category lncRNA
ID NA
Ensembl NA
Synonyms NA
Disease name Volkmann cataract
Species Homo sapiens
Tissues/Cell_line blood
Methods DNA sequencing, qRT-PCR, CLIP-seq
Expression pattern associated
Functional description The mutation in RP1-140A9.1 suggests the long non-coding RNA as the candidate cataract gene associated with the autosomal dominant inherited congenital cataract from CCV. The identified mutation, rs763295804, affects the donor splice site in the long non-coding RNA gene RP1-140A9.1 (ENSG00000231050).
PubMed ID 30820140
Year 2019
Title A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family.
Drug-related ncRNA NO

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