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Novel GNAO1 variant in α-helical domain reveals alternative mechanism of disease
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| 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 | 2026-08-07T15:43:06Z | |
| dc.date.available | 2026-08-07T15:43:06Z | |
| dc.date.issued | 2026-03 | |
| 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/123456789/1563 | |
| dc.description.abstract | Resumen no disponible. | es_ES |
| dc.language.iso | eng | es_ES |
| dc.publisher | Elsevier B.V. on behalf of KeAi Communications Co. Ltd. | es_ES |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.subject | Subunidades alfa de la Proteína de Unión al GTP Gi-Go | es_ES |
| dc.subject | GTP-Binding Protein alpha Subunits, Gi-Go | es_ES |
| dc.subject | Discapacidades del Desarrollo | |
| dc.subject | Developmental Disabilities | |
| dc.subject | Epilepsia | |
| dc.subject | Epilepsy | |
| dc.subject | Trastornos del Movimiento | |
| dc.subject | Movement Disorders | |
| dc.title | Novel GNAO1 variant in α-helical domain reveals alternative mechanism of disease | es_ES |
| dc.type | info:eu-repo/semantics/article | es_ES |
| dc.type | info:eu-repo/semantics/publishedVersion | |
| dc.description.fil | Fil: Schteinschnaider, Ángeles. Fleni. Departamento de Neurología. Servicio de Neuropediatría; Argentina. | |
| 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 |
