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2009 | 1 |
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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.
Nat Genet. 2007 Sep;39(9):1120-6. doi: 10.1038/ng2113. Epub 2007 Aug 19.
Nat Genet. 2007.
PMID: 17704776
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.
Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M.
Spurlock G, et al.
J Med Genet. 2009 Jul;46(7):431-7. doi: 10.1136/jmg.2008.065474. Epub 2009 May 13.
J Med Genet. 2009.
PMID: 19443465
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