Associated Papers
The role of ATP9A (c.1091G > C; p.(Arg364Thr)) variant in cognitive impairment: diagnostic insight from whole exome sequencing.
Yavas C et al.
Molecular Biology Reports, 2026
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
Vogt G et al.
Journal of Medical Genetics, 2022
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.
Mattioli F et al.
Npj Genomic Medicine, 2021
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