Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.L346_R347Splc
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GNAS

NM_000516.7:p.L346_R347Splc

Associated Papers

Inactivating GNAS complex locus variants impair G protein-coupled receptor signaling and cause multiple suture craniosynostosis in humans and zebrafish.

Yan Q et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2026

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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."