De novo variants of IRF2BPL result in developmental epileptic disorder
Abstract Background Pathogenic variants of the IRF2BPL gene have been reported to cause neurodevelopmental disorders; however, studies focused on IRF2BPL in zebrafish are limited. Results We reported three probands diagnosed with developmental delay and epilepsy and investigated the role of IRF2BPL...
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| Autori principali: | , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMC
2024-03-01
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| Serie: | Orphanet Journal of Rare Diseases |
| Soggetti: | |
| Accesso online: | https://doi.org/10.1186/s13023-024-03130-z |
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