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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation
Gene panel and exome sequencing have revealed a high rate of molecular diagnoses among diseases where the genetic architecture has proven suitable for sequencing approaches, with a large number of distinct and highly penetrant causal variants identified among a growing list of disease genes. The cha...
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| Опубликовано в: : | Genome Res |
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| Главные авторы: | , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Cold Spring Harbor Laboratory Press
2017
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5630035/ https://ncbi.nlm.nih.gov/pubmed/28864458 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.226589.117 |
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