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Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
PLoS Genet. 2015 Feb 3;11(2):e1004855. doi: 10.1371/journal.pgen.1004855. eCollection 2015 Feb.
PLoS Genet. 2015.
PMID: 25647241
Free PMC article.
Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.
Ebrahimi-Fakhari D, Wahlster L, Bartz F, Werenbeck-Ueding J, Praggastis M, Zhang J, Joggerst-Thomalla B, Theiss S, Grimm D, Ory DS, Runz H.
Ebrahimi-Fakhari D, et al. Among authors: joggerst thomalla b.
Hum Mol Genet. 2016 Aug 15;25(16):3588-3599. doi: 10.1093/hmg/ddw204. Epub 2016 Jul 4.
Hum Mol Genet. 2016.
PMID: 27378690
Free PMC article.
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