Associated Papers
De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings.
Ikeda M et al.
Journal of Human Genetics, 2026
Germline-derived GNAS-Gsα variants associated with both gain-of-function and loss-of-function phenotypes.
Carcavilla A et al.
European Journal of Endocrinology, 2025
GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.
Bichet DG
European Journal of Endocrinology, 2020
Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.
Miyado M et al.
Journal of the American Society of Nephrology : Jasn, 2019
A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.
Biebermann H et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
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