ABCA4 p.Met448Lys
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PMID: 26593885
[PubMed]
Sciezynska A et al: "Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe."
No.
Sentence
Comment
108
Three of them, including p.M448K (deemed pathogenic by only one algorithm) were detected in two unrelated patients each, which strongly supports their pathogenic potential.
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ABCA4 p.Met448Lys 26593885:108:27
status: NEW