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| Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man K Tuschl, PT Clayton, SM Gospe, S Gulab, S Ibrahim, P Singhi, R Aulakh, ... The American Journal of Human Genetics 90 (3), 457-466, 2012 | 375 | 2012 |
| Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the … J Kazenwadel, GA Secker, YJ Liu, JA Rosenfeld, RS Wildin, ... Blood, The Journal of the American Society of Hematology 119 (5), 1283-1291, 2012 | 299 | 2012 |
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