Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A1
Variant:p.P333R
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ATP1A1

NM_000701.8:p.P333R

Associated Papers

De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome.

Dohrn MF et al.

Neurology, 2022

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Chevarin M et al.

Journal of Medical Genetics, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."