Novel GNAO1 variant in α-helical domain reveals alternative mechanism of disease

Ludlam, William Grant; Domínguez-Carral, Jana; Schteinschnaider, Ángeles; Martemyanov, Kirill A.; Ortigoza-Escobar, Juan Darío

dc.contributor.author	Ludlam, William Grant
dc.contributor.author	Domínguez-Carral, Jana
dc.contributor.author	Schteinschnaider, Ángeles
dc.contributor.author	Martemyanov, Kirill A.
dc.contributor.author	Ortigoza-Escobar, Juan Darío
dc.date.accessioned	2026-07-28T15:25:05Z
dc.date.available	2026-07-28T15:25:05Z
dc.date.issued	2025-10-21
dc.identifier.citation	Ludlam WG, Domínguez-Carral J, Schteinschnaider A, Martemyanov KA, Ortigoza-Escobar JD. Novel GNAO1 variant in α-helical domain reveals alternative mechanism of disease. Genes Dis. 2025 Nov 21;13(2):101714. doi: 10.1016/j.gendis.2025.101714.	es_ES
dc.identifier.uri	https://doi.org/10.1016/j.gendis.2025.101714
dc.identifier.uri	https://repositorio.fleni.org.ar/xmlui/handle/123456789/1533
dc.description.abstract	No abstract available.	es_ES
dc.language.iso	eng	es_ES
dc.publisher	Elsevier	es_ES
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	Enfermedades Genéticas Congénitas	es_ES
dc.subject	Genetic Diseases, Inborn	es_ES
dc.title	Novel GNAO1 variant in α-helical domain reveals alternative mechanism of disease
dc.type	info:eu-repo/semantics/article	es_ES
dc.type	info:eu-repo/semantics/publishedVersion
dc.description.fil	Fil: Ludlam, William Grant. University of Florida; Estados Unidos.
dc.description.fil	Fil: Domínguez-Carral, Jana. Universitat de Barcelona; España.
dc.description.fil	Fil: Schteinschnaider, Ángeles. Fleni. Departamento de Neurología. Servicio de Neuropediatría; Argentina.
dc.description.fil	Fil: Martemyanov, Kirill A. University of Florida; Estados Unidos.
dc.description.fil	Fil: Ortigoza-Escobar, Juan Darío. Institut de Recerca Sant Joan de Déu; España.
dc.relation.ispartofVOLUME	13
dc.relation.ispartofNUMBER	2
dc.relation.ispartofPAGINATION	101714
dc.relation.ispartofCOUNTRY	Países Bajos
dc.relation.ispartofCITY	Ámsterdam
dc.relation.ispartofTITLE	Genes & diseases
dc.relation.ispartofISSN	2352-3042
dc.type.snrd	info:ar-repo/semantics/artículo	es_ES