Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.G947E
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ATP1A3

NM_152296.5:p.G947E

Associated Papers

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2

Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.

Bahl S et al.

Orphanet Journal of Rare Diseases, 2020

33267903 (PubMed )
Supplement: 13023_2020_1617_MOESM1_ESM.docx
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