Bioassay-confirmed Pathogenic De Novo ATP1A1 Variants Cause a Complex Neurodevelopmental Syndrome (S29.009)
Neurology(2022)
摘要
To underline the pathogenicity of five novel heterozygous missense variants in ATP1A1 using a specific bioassay and to characterize a complex neurodevelopmental syndrome, broadening the known phenotypic spectrum associated with this gene.
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