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. 2026 Sep 17;17:1925504. doi: 10.3389/fendo.2026.1925504

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Copyright © 2026 Hua, Xiang, Yu, Wu, Wang, Yang and Wang.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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DNA sequencing chromatogram with labeled bases displays a c.285C>G mutation in the GNAS gene at chromosome 20 position 57428605. A red arrow marks the variant location resulting in a p.Ser95Arg amino acid change. — A heterozygous missense variant in the GNAS gene, c.285C>G: p.Ser95Arg, located in exon 1.