ABCA1 p.Ser2046Arg

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PMID: 25904599 [PubMed] Zhang H et al: "Functional analysis and transcriptomic profiling of iPSC-derived macrophages and their application in modeling Mendelian disease."
No. Sentence Comment
127 We recruited 2 TD individuals, TD-1, compound heterozygote at S2046R/K531N, and TD-2, homozygous for the E1005X/E1005X truncation mutation.
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ABCA1 p.Ser2046Arg 25904599:127:62
status: NEW
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