Abstract
CLN3 encodes battenin, a protein involved in lysosomal function and neuronal transport. Mutations in this gene are associated with a syndromic retinal degeneration, Batten disease, or juvenile neuronal ceroid lipofuscinosis (JNCL), as well as non-syndromic retinal degeneration [1].
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Zahid, S. et al. (2018). CLN3 . In: Retinal Dystrophy Gene Atlas. Springer, Cham. https://doi.org/10.1007/978-3-319-10867-4_18
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DOI: https://doi.org/10.1007/978-3-319-10867-4_18
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