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Identification of CYP2C9*2 allele in HepG2 cell line.
Chen J, Raymond K. Chen J, et al. Among authors: raymond k. Int J Gastrointest Cancer. 2006;37(2-3):79-83. doi: 10.1007/s12029-007-0003-7. Int J Gastrointest Cancer. 2006. PMID: 17827526
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D; University of Washington Center for Mendelian Genomics (UW-CMG), Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH. Ng BG, et al. Among authors: raymond k. Am J Hum Genet. 2021 May 4:S0002-9297(21)00144-0. doi: 10.1016/j.ajhg.2021.04.013. Online ahead of print. Am J Hum Genet. 2021. PMID: 33964207
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK. Alsharhan H, et al. Among authors: raymond km. J Inherit Metab Dis. 2021 Mar 18. doi: 10.1002/jimd.12378. Online ahead of print. J Inherit Metab Dis. 2021. PMID: 33734437
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