Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

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Bartsch O, Locher K, Meinecke P, Kress W, Seemanova E, Wagner A, Ostermann K, Rodel G

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

J Med Genet. 2002 Jul;39(7):496-501.

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12114483 [ View in PubMed
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DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
CREB-binding proteinQ92793Details