Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A1
Variant:p.A299_L313del15
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ATP1A1

NM_000701.8:p.A299_L313del15

Associated Papers

Double CYP11B1/CYP11B2 Immunohistochemistry and Detection of KCNJ5 Mutations in Primary Aldosteronism.

Caroccia B et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Pathogenesis of Primary Aldosteronism: Impact on Clinical Outcome.

Santana LS et al.

Frontiers in Endocrinology, 2022

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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."