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ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration
BACKGROUND: The ARHGEF9 gene variants have phenotypic heterogeneity, the number of reported clinical cases are limited and the genotype–phenotype relationship is still unpredictable. METHODS: Clinical data of the patients and their family members were gathered in a retrospective study. The exome seq...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266599/ https://www.ncbi.nlm.nih.gov/pubmed/35638461 http://dx.doi.org/10.1002/mgg3.1967 |