ABCA4 p.Arg2040*

ClinVar: c.6119G>A , p.Arg2040Gln N , Likely benign
c.6118C>T , p.Arg2040* ? , not provided

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[hide] Xin W, Xiao X, Li S, Jia X, Guo X, Zhang Q
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.
PLoS One. 2015 Jul 10;10(7):e0132635. doi: 10.1371/journal.pone.0132635. eCollection 2015., [PMID:26161775]

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