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rd3

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Official Full Name
retinal degeneration 3
Background
This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants.
Synonyms
RD3; retinal degeneration 3; C1orf36, chromosome 1 open reading frame 36; protein RD3; LCA12; C1orf36; chromosome 1 open reading frame 36; zgc:158792; si:dkey-249p7.1

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