Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.Q227*
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GNAS

NM_000516.7:p.Q227*

Associated Papers

Genetic characterization of intramuscular myxomas.

Hatchett WJ et al.

Pathology Oncology Research : Por, 2024

38317844 (PubMed )
Supplement: Table1.xlsx › Sheet1

A mutation spectrum that includes GNAS, KRAS and TP53 may be shared by mucinous neoplasms of the appendix.

Hara K et al.

Pathology, Research and Practice, 2015

Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

Richard N et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

The new bone biology: pathologic, molecular, and clinical correlates.

Cohen MM

American Journal of Medical Genetics. Part A, 2006

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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."