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LAMB2 novel variant c.2885‐9 C>A affects RNA splicing in a minigene assay
BACKGROUND: Both Pierson syndrome (PS) and isolated nephrotic syndrome can be caused by LAMB2 biallelic pathogenic variants. Only 15 causative splicing variants in the LAMB2 gene have been reported. However, the pathogenicity of most of these variants has not been verified, which may lead to incorre...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372075/ https://www.ncbi.nlm.nih.gov/pubmed/33982833 http://dx.doi.org/10.1002/mgg3.1704 |