Varaico: Literature-Extracted Genetic Variants

Gene:AP2S1
Variant:p.M117I
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AP2S1

NM_004069.6:p.M117I

Associated Papers

Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective.

Marx SJ et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019

Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.

Gorvin CM et al.

Human Molecular Genetics, 2018

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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."