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Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue
OBJECTIVE: Many genetic studies of intractable epilepsy in pediatric patients primarily focus on inherited, constitutional genetic deficiencies identified in patient blood. Recently, studies have revealed somatic mosaicism associated with epilepsy in which genetic variants are present only in a subs...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7323482/ https://www.ncbi.nlm.nih.gov/pubmed/32637635 http://dx.doi.org/10.1212/NXG.0000000000000460 |