ABCA4 p.Ile2113*

ClinVar: c.6339C>G , p.Ile2113Met ? , not provided

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[hide] Rozet JM, Gerber S, Souied E, Perrault I, Chatelin S, Ghazi I, Leowski C, Dufier JL, Munnich A, Kaplan J
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
Eur J Hum Genet. 1998 May-Jun;6(3):291-5., [PMID:9781034]

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