Variants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum. www.sciencedirect.com/science/arti... #hvhebron #gen #malmin [Text complet]
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@bibliotecahuvh.bsky.social@bibliotecahuvh.bsky.socialBiallelic Pathogenic Variants in PYGM Impair Retinal Glycogenolysis Causing a Range of Phenotypes. iovs.arvojournals.org/article.aspx... #hvhebron #malmin [Text complet]