Associated Papers
Structure-Based Approaches to Classify the Functional Impact of ZBTB18 Missense Variants in Health and Disease.
Blake S et al.
Acs Chemical Neuroscience, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F et al.
Genome Medicine, 2019
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