Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A1
Variant:p.I327S
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ATP1A1

NM_000701.8:p.I327S

Associated Papers

Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1.

Biondo ED et al.

American Journal of Physiology. Cell Physiology, 2021

Na/K Pump Mutations Associated with Primary Hyperaldosteronism Cause Loss of Function.

Meyer DJ et al.

Biochemistry, 2019

Immunohistochemistry of the adrenal in primary aldosteronism.

Gomez-Sanchez CE et al.

Current Opinion in Endocrinology, Diabetes, and Obesity, 2016

Case Report: Nodule Development From Subcapsular Aldosterone-Producing Cell Clusters Causes Hyperaldosteronism.

Nishimoto K et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

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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."