ABCA4 p.Tyr1770Asp
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PMID: 25312043
[PubMed]
Fujinami K et al: "Clinical and molecular characteristics of childhood-onset Stargardt disease."
No.
Sentence
Comment
102
Thirteen novel definitely or highly likely disease-causing variants were identified: p.Gln8fs, p.Cys519*, p.Asp586Gly, p.Arg587Lys, p.Glu905fs, p.Tyr1027*, p.Met1066- Arg, p.Arg1097*, p.Thr1721fs, p.Tyr1770Asp, p.Ala1739dup, p.Ser2072Asn, and c.6817-2A>C (Table 4).
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ABCA4 p.Tyr1770Asp 25312043:102:199
status: NEW