mEmerald-TGNP-N-10 Citations (2)
Originally described in: Davidson mEmeraldUnpublished
Articles Citing mEmerald-TGNP-N-10
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| A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome. Ilie A, Gao AYL, Boucher A, Park J, Berghuis AM, Hoffer MJV, Hilhorst-Hofstee Y, McKinney RA, Orlowski J. Neurobiol Dis. 2019 Jan;121:187-204. doi: 10.1016/j.nbd.2018.10.002. Epub 2018 Oct 5. PubMed |
| A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Khayat W, Hackett A, Shaw M, Ilie A, Dudding-Byth T, Kalscheuer VM, Christie L, Corbett MA, Juusola J, Friend KL, Kirmse BM, Gecz J, Field M, Orlowski J. Hum Mol Genet. 2019 Feb 15;28(4):598-614. doi: 10.1093/hmg/ddy371. PubMed |
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