Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.R201P
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GNAS

NM_000516.7:p.R201P

Associated Papers

Benign fibro-osseous lesions of the cranio-maxillofacial bones: an updated review with special emphasis on molecular pathogenesis.

Pandiar D et al.

Journal of Bone and Mineral Metabolism, 2025

Identification of Novel and Rare GNAS Mutations in Craniofacial Fibrous Dysplasia.

Xue J et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2025

Genetic characterization of intramuscular myxomas.

Hatchett WJ et al.

Pathology Oncology Research : Por, 2024

A Rare Skeletal Disorder, Fibrous Dysplasia: A Review of Its Pathogenesis and Therapeutic Prospects.

Kim HY et al.

International Journal of Molecular Sciences, 2023

Identification of novel GNAS mutations in intramuscular myxoma using next-generation sequencing with single-molecule tagged molecular inversion probes.

Bekers EM et al.

Diagnostic Pathology, 2019

A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone.

Idowu BD et al.

Histopathology, 2007

A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome.

Karadag A et al.

Nucleic Acids Research, 2004

A novel GNAS1 mutation, R201G, in McCune-albright syndrome.

Riminucci M et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 1999

Pancreatic Mixed Acinar-neuroendocrine Carcinoma in a Patient With a Germline PTEN Variant: A Case Report and Genomic Literature Review.

Saito Y et al.

In Vivo (athens, Greece), 0

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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."