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Article

Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association.

European journal of medical genetics - 1 Jul 2021

Lansdon Lisa A, Fleming Emily A, Viso Florencia Del, Sullivan Bonnie R, Saunders Carol J

Abstract excerpt

G-proteins are ubiquitously expressed heterotrimeric proteins consisting of α, β and γ subunits and mediate G-protein coupled receptor signalling cascades. The β subunit is encoded by one of five highly similar paralogs (GNB1-GNB5, accordingly). The developmental importance of G-proteins is highlighted by the clinical relevance of variants in genes such as GNB1, which cause severe neurodevelopmental disease...

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Identifiers

PMID: 33971351
DOI: 10.1016/j.ejmg.2021.104243

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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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