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Article

Identification of alternative transcripts of NSD1 gene in Sotos Syndrome patients and healthy subjects

17 Oct 2022

Abstract excerpt

NSD1 gene (Nuclear Receptor Binding SET Domain Protein 1) encodes a methyltransferase that plays an important role in embryonic development. NSD1 is implicated in the transcription and methylation of histone H3 at lysine 36 (H3-K36), but the molecular mechanisms involved in these processes remain largely unknown. Pathogenic variants of NSD1 gene lead to Sotos syndrome, and have also been detected in some type of...

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PMID: 36261088
DOI: 10.1016/j.gene.2022.146970

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