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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Frontiers Media S.A.,
2021-11-01T00:00:00Z.
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