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A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay
BACKGROUND: QRICH1 encodes the glutamine‐rich protein 1, which contains one caspase activation recruitment domain and is likely to be involved in apoptosis and inflammation. However, the function of the QRICH1 gene was largely unknown. Recently, several studies have reported de novo variants in QRIC...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10422060/ https://www.ncbi.nlm.nih.gov/pubmed/37331002 http://dx.doi.org/10.1002/mgg3.2227 |