Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants
| Authors: | , , , , , |
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| Format: | article |
| Status: | Published version |
| Publication Date: | 2024 |
| Country: | España |
| Institution: | Fundació Sant Joan de Déu |
| Repository: | r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu |
| OAI Identifier: | oai:fsjd.fundanetsuite.com:p24936 |
| Online Access: | https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=24936 |
| Access Level: | Open access |
| Keyword: | diagnosis GNB5 GNB5-developmental disorder hypomorphic allele |
| Description not available. |