De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature
Article in Genes (June 2024)
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Article in Genes (June 2024)
Article in Disease Models & Mechanisms (May 2024)
Article in Frontiers in Cell and Developmental Biology (March 2024)