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Active filtersEntity: GNB1-related neurodevelopmental disorder ×

GNB1-related neurodevelopmental disorder

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GNB1-related neurodevelopmental disorder1

Articles mentioning GNB1-related neurodevelopmental disorder

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GNB1-related neurodevelopmental disorder due to a pathogenic exon 6 variant NM_002074.5:c239T>A (p.Ile80Asn) inherited from an asymptomatic father with mosaicism

bmjcr · abstract · 2026-05-19 · 1 matching annotations

91.9%

GNB1-related neurodevelopmental disorder GNB1

…GNB1-related neurodevelopmental disorder is a rare developmental encephalopathy caused by pathogenic var…