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Constructing a database for the relations between CNV and human genetic diseases via systematic text mining
BACKGROUND: The detection and interpretation of CNVs are of clinical importance in genetic testing. Several databases and web services are already being used by clinical geneticists to interpret the medical relevance of identified CNVs in patients. However, geneticists or physicians would like to ob...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311945/ https://www.ncbi.nlm.nih.gov/pubmed/30598077 http://dx.doi.org/10.1186/s12859-018-2526-2 |