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TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
Am J Med Genet A. 2017 Mar;173(3):771-775. doi: 10.1002/ajmg.a.38083.
Am J Med Genet A. 2017.
PMID: 28211972
Review.
The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations.
Potter KJ, Creighton S, Armstrong L, Eydoux P, Duncan W, Penny DJ, Fan Y, Gibson WT.
Potter KJ, et al.
Mol Syndromol. 2013 Mar;4(3):125-35. doi: 10.1159/000347163. Epub 2013 Feb 28.
Mol Syndromol. 2013.
PMID: 23653584
Free PMC article.
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Myelodysplasia and leukemia syndrome with monosomy 7: a genetic perspective.
Gilchrist DM, Friedman JM, Rogers PC, Creighton SP.
Gilchrist DM, et al. Among authors: creighton sp.
Am J Med Genet. 1990 Mar;35(3):437-41. doi: 10.1002/ajmg.1320350323.
Am J Med Genet. 1990.
PMID: 2309795
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