ABCA4 p.Arg219*

ClinVar: c.656G>C , p.Arg219Thr ? , not provided

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[hide] Xi Q, Li L, Traboulsi EI, Wang QK
Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.
Mol Vis. 2009;15:638-45. Epub 2009 Apr 3., [PMID:19352439]

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