An Adnp frameshift variant disrupts Wnt signalling inducing chromatocytoskeletal defects and autism-related behaviour in male mice

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EBioMedicine - ISSN 2352-3964-128 (2026) p.
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A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome

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European journal of human genetics - ISSN 1018-4813-33:12 (2025) p. 1596-1605
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