Associated Papers
ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.
Raynor A et al.
Journal of Inherited Metabolic Disease, 2025
Identification of Synonymous Pathogenic Variants in Monogenic Disorders by Integrating Exome with Transcriptome Sequencing.
Zhang L et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Synonymous variants in the ATP6AP2 gene may lead to developmental and epileptic encephalopathy.
Liang Y et al.
Frontiers in Neurology, 2023
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R et al.
Epilepsia Open, 2019
31440721 (PubMed )
Supplement: EPI4-4-397-s003.xlsx › SupplementaryTable2
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