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The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
Am J Ophthalmol. 2019 Mar;199:58-70. doi: 10.1016/j.ajo.2018.09.024. Epub 2018 Sep 28.
Am J Ophthalmol. 2019.
PMID: 30268864
Free PMC article.
Mutations in RPE65 cause Leber's congenital amaurosis.
Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliaou C, Liu SY, Harris E, Redmond TM, Arnaud B, Claustres M, Hamel CP.
Marlhens F, et al.
Nat Genet. 1997 Oct;17(2):139-41. doi: 10.1038/ng1097-139.
Nat Genet. 1997.
PMID: 9326927
No abstract available.
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.
Richards S, et al.
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
Genet Med. 2015.
PMID: 25741868
Free PMC article.
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