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D. I

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Case report Jun 2026

[De novo variant in the ATP2B2 gene as a cause of neuropsychiatric developmental disorder].

A case study involving a patient diagnosed with autism spectrum disorder and intellectual disability, who possesses a previously unreported heterozygous variant in the ATP2B2 gene, which results in the loss of the stop codon potentially leading to an elongation of the protein chain.

D. I · 0 citations