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Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families.
Ohata Y, Kakimoto H, Seki Y, Ishihara Y, Nakano Y, Yamamoto K, Takeyari S, Fujiwara M, Kitaoka T, Takakuwa S, Kubota T, Ozono K. Ohata Y, et al. Among authors: seki y. Bone Rep. 2022 Nov 10;17:101637. doi: 10.1016/j.bonr.2022.101637. eCollection 2022 Dec. Bone Rep. 2022. PMID: 36407415 Free PMC article.
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