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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| Records Return:
(1)
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| Catalog ID | Gender | Age at Sampling | Family | Relationship | Description | Collection_Type_id |
| GM18366 | Male | 6 YR | 3302 | proband | SECKEL SYNDROME | GM |
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