A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China

Background: The nucleus accumbens associated 1 (NACC1) gene is a transcription factor member of the BTB/POZ family. A de novo heterozygous c.892C>T (p.Arg298Trp) variant in the NACC1 may define a syndrome characterized by intellectual disability, infantile epilepsy, congenital cataract, and feedi...

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Main Authors: Baiyu Lyu (Author), Yan Dong (Author), Juan Kang (Author)
Format: Book
Published: Frontiers Media S.A., 2021-11-01T00:00:00Z.
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3rd Floor Main Library

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