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Article

Rod-cone dystrophy in an adult with GNB1-related disorder: An expansion of the phenotype and natural history.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2023

Yang Xiao-Ru, Kassam Faazil, Innes A Micheil

Abstract excerpt

GNB1-related disorder is characterized by intellectual disability, abnormal tone, and other variable neurologic and systemic features. GNB1 encodes the β1 subunit of the heterotrimeric G-protein, a complex with a key role in signal transduction. Consistent with its particularly high expression in rod photoreceptors, Gβ1 forms a subunit of retinal transducin (Gαtβ1γ1 ), which mediates phototransduction. In mice,...

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Identifiers

PMID: 37212526
DOI: 10.1002/ajmg.c.32045

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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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