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Journal of Medical Genetics logoLink to Journal of Medical Genetics
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. 2001 May;38(5):347–349. doi: 10.1136/jmg.38.5.347

A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex

L Khare, G Strizheva, J Bailey, K Au, H Northrup, M Smith, S Smalley, E P Henske
PMCID: PMC1734876  PMID: 11403047

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