Varaico: Literature-Extracted Genetic Variants

Gene:AP2S1
Variant:p.L135Q
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AP2S1

NM_004069.6:p.L135Q

Associated Papers

The Molecular Basis of Calcium and Phosphorus Inherited Metabolic Disorders.

Papadopoulou A et al.

Genes, 2021

Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

Howles SA et al.

Jci Insight, 2017

Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.

Hannan FM et al.

Journal of Molecular Endocrinology, 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."