ABCA4 p.Thr1519Arg
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PMID: 22427542
[PubMed]
Fritsche LG et al: "A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene."
No.
Sentence
Comment
93
These patients were heterozygous for variants c.634C>T (p.R212C), c.4556C>G (p.T1519R), and c.6148G>C (p.V2050L), respectively.
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ABCA4 p.Thr1519Arg 22427542:93:79
status: NEW91 These patients were heterozygous for variants c.634C>T (p.R212C), c.4556C>G (p.T1519R), and c.6148G>C (p.V2050L), respectively.
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ABCA4 p.Thr1519Arg 22427542:91:79
status: NEW