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Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/217531
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dc.contributor.authorPijuan, Jordi-
dc.contributor.authorVilanova Adell, Alba-
dc.contributor.authorCasas Alba, Dídac-
dc.contributor.authorCampistol Plana, Jaume-
dc.contributor.authorHoenicka Blanco, Janet-
dc.contributor.authorPalau Martínez, Francesc-
dc.date.accessioned2025-01-15T14:02:29Z-
dc.date.issued2024-03-01-
dc.identifier.issn0009-9163-
dc.identifier.urihttps://hdl.handle.net/2445/217531-
dc.description.abstractWe studied a patient with a severe phenotype carrying two GNB5 variants: c.514delT from the unaffected heterozygous mother and c.628-6G>A from the unaffected homozygous father. Functional genomics studies showed that parents express 50% (nonsense-mediated decay, NMD) of the RNA/protein while the patient does not produce enough protein for normal development.-
dc.format.extent3 p.-
dc.format.mimetypeapplication/pdf-
dc.language.isoeng-
dc.publisherJohn Wiley & Sons-
dc.relation.isformatofReproducció del document publicat a: https://doi.org/10.1111/cge.14454-
dc.relation.ispartofClinical Genetics, 2024, vol. 105, num.3, p. 340-342-
dc.relation.urihttps://doi.org/10.1111/cge.14454-
dc.rightscc by-nc-nd (c) Pijuan, Jordi et al., 2024-
dc.sourceArticles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques)-
dc.subject.classificationGenòmica-
dc.subject.classificationTrastorns del desenvolupament-
dc.subject.classificationGenètica mèdica-
dc.subject.otherGenomics-
dc.subject.otherDevelopmental disabilities-
dc.subject.otherMedical genetics-
dc.titleInheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants-
dc.typeinfo:eu-repo/semantics/article-
dc.typeinfo:eu-repo/semantics/publishedVersion-
dc.identifier.idgrec751764-
dc.date.updated2025-01-15T14:02:29Z-
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess-
dc.identifier.pmid37994112-
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