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Article

GNAS gene mutations affecting XLαs and bone health: A long neglected relationship.

Clinical genetics - 1 Sept 2023

Xie Yanni, Chen Xiang, Xie Ying, Yu Xijie

Abstract excerpt

The GNAS locus is an imprinted site. The α-subunit of the stimulatory G protein (Gsα) and extralarge variant (XLαs) are the two important products of the GNAS locus. The abnormal expression of Gsα is associated with pseudohypoparathyroidism (PHP) and related disorders, including Albright hereditary osteodystrophy (AHO), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH). XLαs...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP-Binding Protein alpha Subunits, Gs

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Source

Identifiers

PMID: 37249323
DOI: 10.1111/cge.14378

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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