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TITINdb—a computational tool to assess titin’s role as a disease gene
SUMMARY: Large numbers of rare and unique titin missense variants have been discovered in both healthy and disease cohorts, thus the correct classification of variants as pathogenic or non-pathogenic has become imperative. Due to titin’s large size (363 coding exons), current web applications are un...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5860166/ https://www.ncbi.nlm.nih.gov/pubmed/29077808 http://dx.doi.org/10.1093/bioinformatics/btx424 |