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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2003 | 1 |
2004 | 2 |
2006 | 1 |
2024 | 0 |
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Page 1
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation.
Ann Neurol. 2006 Nov;60(5):528-539. doi: 10.1002/ana.21037.
Ann Neurol. 2006.
PMID: 17120248
Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.
Chan JA, Zhang H, Roberts PS, Jozwiak S, Wieslawa G, Lewin-Kowalik J, Kotulska K, Kwiatkowski DJ.
Chan JA, et al.
J Neuropathol Exp Neurol. 2004 Dec;63(12):1236-42. doi: 10.1093/jnen/63.12.1236.
J Neuropathol Exp Neurol. 2004.
PMID: 15624760
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Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.
Roberts PS, Dabora S, Thiele EA, Franz DN, Jozwiak S, Kwiatkowski DJ.
Roberts PS, et al.
J Med Genet. 2004 May;41(5):e69. doi: 10.1136/jmg.2003.014126.
J Med Genet. 2004.
PMID: 15121797
Free PMC article.
No abstract available.
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A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation.
Roberts PS, Ramesh V, Dabora S, Kwiatkowski DJ.
Roberts PS, et al.
Ann Hum Genet. 2003 Nov;67(Pt 6):495-503. doi: 10.1046/j.1529-8817.2003.00059.x.
Ann Hum Genet. 2003.
PMID: 14641237
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