Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.R356fs
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GNAS

NM_000516.7:p.R356fs

Associated Papers

Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with Acetazolamide Treatment.

Seven Menevse T et al.

Hormone Research in Paediatrics, 2024

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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."