ABCA4 p.Ala538Val
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PMID: 23755871
[PubMed]
Riveiro-Alvarez R et al: "Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families."
No.
Sentence
Comment
91
Almost all disease-associated variants were found in both arSTGD and arCRD phenotypes in our cohort, with the exception of p.Leu11Pro, p.Arg18Trp, p.Ala538Val, and p.Val1973*, which were associated only with CRD.
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ABCA4 p.Ala538Val 23755871:91:149
status: NEW