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2002 2
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Page 1
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.
Duan R, Marafi D, Xia ZJ, Ng BG, Maroofian R, Sumya FT, Saad AK, Du H, Fatih JM, Hunter JV, Elbendary HM, Baig SM, Abdullah U, Ali Z, Efthymiou S, Murphy D, Mitani T, Withers MA, Jhangiani SN, Coban-Akdemir Z, Calame DG, Pehlivan D, Gibbs RA, Posey JE, Houlden H, Lupashin VV, Zaki MS, Freeze HH, Lupski JR. Duan R, et al. Among authors: lupashin vv. J Inherit Metab Dis. 2023 Nov;46(6):1195-1205. doi: 10.1002/jimd.12679. Epub 2023 Oct 5. J Inherit Metab Dis. 2023. PMID: 37711075
Insights into the regulation of cellular Mn2+ homeostasis via TMEM165.
Vicogne D, Beauval N, Durin Z, Allorge D, Kondratska K, Haustrate A, Prevarskaya N, Lupashin V, Legrand D, Foulquier F. Vicogne D, et al. Among authors: lupashin v. Biochim Biophys Acta Mol Basis Dis. 2023 Aug;1869(6):166717. doi: 10.1016/j.bbadis.2023.166717. Epub 2023 Apr 14. Biochim Biophys Acta Mol Basis Dis. 2023. PMID: 37062452 Free PMC article.
Correction to: Golgi.
Wang Y, Lupashin VV, Graham TR. Wang Y, et al. Among authors: lupashin vv. Methods Mol Biol. 2023;2557:C1. doi: 10.1007/978-1-0716-2639-9_48. Methods Mol Biol. 2023. PMID: 36763332 No abstract available.
74 results