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Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
Am J Hum Genet. 2018 Jun 7;102(6):1062-1077. doi: 10.1016/j.ajhg.2018.04.003. Epub 2018 May 24.
Am J Hum Genet. 2018.
PMID: 29805046
Free PMC article.
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.
Han ST, Rab A, Pellicore MJ, Davis EF, McCague AF, Evans TA, Joynt AT, Lu Z, Cai Z, Raraigh KS, Hong JS, Sheppard DN, Sorscher EJ, Cutting GR.
Han ST, et al. Among authors: lu z.
JCI Insight. 2018 Jul 26;3(14):e121159. doi: 10.1172/jci.insight.121159. eCollection 2018 Jul 26.
JCI Insight. 2018.
PMID: 30046002
Free PMC article.
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Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.
McCague AF, Raraigh KS, Pellicore MJ, Davis-Marcisak EF, Evans TA, Han ST, Lu Z, Joynt AT, Sharma N, Castellani C, Collaco JM, Corey M, Lewis MH, Penland CM, Rommens JM, Stephenson AL, Sosnay PR, Cutting GR.
McCague AF, et al. Among authors: lu z.
Am J Respir Crit Care Med. 2019 May 1;199(9):1116-1126. doi: 10.1164/rccm.201901-0145OC.
Am J Respir Crit Care Med. 2019.
PMID: 30888834
Free PMC article.
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