Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.
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Kmoch S, et al. Among authors: cayouette m.
Nat Commun. 2015 Jan 9;6:5614. doi: 10.1038/ncomms6614.
Nat Commun. 2015.
PMID: 25574898
Free PMC article.