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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Ounap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA
Am J Hum Genet. 2020 Jan 3. pii: S0002-9297(19)30471-9. doi: 10.1016/j.ajhg.2019.12.007.
PubMed Article

Plasmids from Article

ID Plasmid  
136365pINTO-N3::hTET3 HxD
136366pINTO-N3::hTET3 F1072C
136367pINTO-N3::hTET3 R752C
136368pINTO-N3::hTET3 A1076T
136369pINTO-N3::hTET3 V1089M
136370pINTO-N3::hTET3 V908L