Just lately, an ATP1B1 nonsense mutation, p.R143X, was identified in a client with autistic capabilities [32]
Summary of CNVs involving KIRREL3 interacting proteins MYO16, MAP1B, and ATP1B1 in clients with neurodevelopmental disorders. Affected individual ID and Phenotype DGDP067A Receptive-expressive language condition, microcephaly, visible impairment, astigmatism, strabismus,…