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Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development

Mutations in SET BINDING PROTEIN 1 (SETBP1) cause two different clinically distinguishable diseases called Schinzel–Giedion syndrome (SGS) or SETBP1 deficiency syndrome (SDD). Both disorders are disorders of protein dosage, where SGS is caused by decreased rate of protein breakdown due to mutations...

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Autors principals: Lilit Antonyan, Carl Ernst
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2022-05-01
Col·lecció:Frontiers in Neuroscience
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Accés en línia:https://www.frontiersin.org/articles/10.3389/fnins.2022.813430/full
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