Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis

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The de novo SETBP1 mutation was the genetic cause of SETBP1-HD in the family. BLCA and STAD might be related to SETBP1 overexpression.

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Published in: Orphanet Journal of Rare Diseases

Volume 18, Issue 1, pp. 107-107

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