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Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy
Missense and truncating variants in protocadherin 19 (PCDH19) cause PCDH19-related epilepsy. In this study, we aimed to investigate variations in distributional characteristics and the clinical implications of variant type in PCDH19-related epilepsy. We comprehensively collected PCDH19 missense and...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Singapore
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8144015/ https://www.ncbi.nlm.nih.gov/pubmed/33262389 http://dx.doi.org/10.1038/s10038-020-00880-z |