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Insights Into de novo Mutation Variation in Lithuanian Exome
In the last decade, one of the biggest challenges in genomics research has been to distinguish definitive pathogenic variants from all likely pathogenic variants identified by next-generation sequencing. This task is particularly complex because of our lack of knowledge regarding overall genome vari...
Autores principales: | Pranckėnienė, Laura, Jakaitienė, Audronė, Ambrozaitytė, Laima, Kavaliauskienė, Ingrida, Kučinskas, Vaidutis |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102505/ https://www.ncbi.nlm.nih.gov/pubmed/30154829 http://dx.doi.org/10.3389/fgene.2018.00315 |
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