ABCA1 p.Glu1005*
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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.
X
ABCA1 p.Glu1005* 25904599:127:105
status: NEWX
ABCA1 p.Glu1005* 25904599:127:112
status: NEW