Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.V375L
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GNAS

NM_000516.7:p.V375L

Associated Papers

Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report.

Zhou Q et al.

Italian Journal of Pediatrics, 2022

Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.

Chang G et al.

Bmc Endocrine Disorders, 2022

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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."