Publication

O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA, A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat Genet33(4):497-501 2003
PubMed ID: 12640452

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Catalog IDGenderAge at SamplingDescription
GM18366Male6 YRSECKEL SYNDROME