ABCA4 p.Ile2142Val
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PMID: 19028736
[PubMed]
Aguirre-Lamban J et al: "Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants."
No.
Sentence
Comment
43
We identified the heterozygous p.Ile2142Val change in one out of 100 control chromosomes.
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ABCA4 p.Ile2142Val 19028736:43:33
status: NEW