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Transcript isoforms of Reep6 have distinct functions in the retina.
Hum Mol Genet. 2021 Oct 13;30(21):1907-1918. doi: 10.1093/hmg/ddab157.
Hum Mol Genet. 2021.
PMID: 34104971
Free PMC article.
Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice.
Zaneveld SA, Eblimit A, Liang Q, Bertrand R, Wu N, Liu H, Nguyen Q, Zaneveld J, Wang K, Li Y, Chen R.
Zaneveld SA, et al.
Hum Gene Ther. 2019 Mar;30(3):302-315. doi: 10.1089/hum.2018.078. Epub 2018 Oct 16.
Hum Gene Ther. 2019.
PMID: 30101608
Free PMC article.
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NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype.
Eblimit A, Zaneveld SA, Liu W, Thomas K, Wang K, Li Y, Mardon G, Chen R.
Eblimit A, et al. Among authors: zaneveld sa.
Exp Eye Res. 2018 Aug;173:32-43. doi: 10.1016/j.exer.2018.04.010. Epub 2018 Apr 17.
Exp Eye Res. 2018.
PMID: 29674119
Free PMC article.
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