ABCC8 p.Phe565Ser
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PMID: 11328726
[PubMed]
Rozet JM et al: "Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA)."
No.
Sentence
Comment
61
F565S and R540C were not analyzed in this study.
X
ABCC8 p.Phe565Ser 11328726:61:0
status: NEW