Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.I185I
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GNAS

NM_000516.7:p.I185I

Associated Papers

A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy.

Klagge A et al.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2010

A novel polymorphism at the GNAS1 gene associated with low circulating calcium levels.

Masi L et al.

Clinical Cases in Mineral and Bone Metabolism : the Official Journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases, 2007

Activating and inactivating mutations in the human GNAS1 gene.

Aldred MA et al.

Human Mutation, 2000

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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."