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A novel mutation in a common pathogenic gene (SETD5) associated with intellectual disability: A case report
Intellectual disability (ID) is a non-specific phenotype present in a genetically heterogeneous group of disorders. The genetic cause of ID remains elusive in the majority of patients due to this extreme heterogeneity. Whole exome sequencing technology has been applied to identify pathogenic gene va...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6812316/ https://www.ncbi.nlm.nih.gov/pubmed/31656537 http://dx.doi.org/10.3892/etm.2019.8059 |