Varaico: Literature-Extracted Genetic Variants

Gene:GNA11
Variant:p.I62V
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GNA11

NM_002067.5:p.I62V

Associated Papers

Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model.

Hannan FM et al.

Jbmr Plus, 2020

International Union of Basic and Clinical Pharmacology. CVIII. Calcium-Sensing Receptor Nomenclature, Pharmacology, and Function.

Leach K et al.

Pharmacological Reviews, 2020

Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.

Gorvin CM et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Knockin mouse with mutant Gα11 mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors.

Roszko KL et al.

Jci Insight, 2017

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.

Gorvin CM et al.

Jci Insight, 2017

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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."