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Q34596078-4A8532C9-8973-4A90-B41A-1F97E706DFAC
Q34596078-4A8532C9-8973-4A90-B41A-1F97E706DFAC
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http://www.wikidata.org/entity/statement/Q34596078-4A8532C9-8973-4A90-B41A-1F97E706DFAC
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.
P2860
Q34596078-4A8532C9-8973-4A90-B41A-1F97E706DFAC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34596078-4A8532C9-8973-4A90-B41A-1F97E706DFAC
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wasDerivedFrom
f257f2b3883477b409b1e7c8ea5a3411f0079bb2
P2860
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations