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Article

GNAS -Related Loss-of-Function Disorders and the Role of Imprinting.

Hormone research in paediatrics - 1 Jan 2013

Linglart Agnès, Maupetit-Méhouas Stéphanie, Silve Caroline

Abstract excerpt

GNAS (guanine nucleotide-binding protein, α stimulating) is a complex imprinted locus coding, besides the α-stimulatory subunit of the G protein, the paternally (extra-large, antisense and A/B) and maternally (neuroendocrine secretory protein) transcripts. Heterozygous mutations in the coding sequence of GNAS produce dominant phenotypes (combination of resistances to hormones signaling through G-protein-coupled...

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Source

Identifiers

PMID: 23548772
DOI: 10.1159/000348516

Genes

GNAS
STX16

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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