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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 2004 May;41(5):e64. doi: 10.1136/jmg.2003.010835

Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis

K Mayer, M Goedbloed, K van Zijl, M Nellist, H Rott
PMCID: PMC1735780  PMID: 15121792

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