Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A1
Variant:p.Y148*
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ATP1A1

NM_000701.8:p.Y148*

Associated Papers

Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function.

Spontarelli Fruit K et al.

Neurology. Genetics, 2025

ATP1A1-linked diseases require a malfunctioning protein product from one allele.

Spontarelli K et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2024

ATP1A1 -linked diseases require a malfunctioning protein product from one allele.

Spontarelli K et al.

Biorxiv : the Preprint Server for Biology, 2023

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