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
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