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Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing
Status epilepticus is not rare in critically ill intensive care unit patients, but its diagnosis is often delayed or missed. The mortality for convulsive status epilepticus is dependent on the underlying aetiologies and the age of the patients and thus varies from study to study. In this context, ef...
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| Publicat a: | Cold Spring Harb Mol Case Stud |
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| Autors principals: | , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Cold Spring Harbor Laboratory Press
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7304362/ https://ncbi.nlm.nih.gov/pubmed/32358097 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003970 |
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