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MSeqDR mvTool: a Mitochondrial DNA Web and API Resource for Comprehensive Variant Annotation, Universal Nomenclature Collation, and Reference Genome Conversion
Accurate mitochondrial DNA (mtDNA) variant annotation is essential for the clinical diagnosis of diverse human diseases. Substantial challenges to this process include the inconsistency in mtDNA nomenclatures, the existence of multiple reference genomes, and a lack of reference population frequency...
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| Publicado no: | Hum Mutat |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5992054/ https://ncbi.nlm.nih.gov/pubmed/29539190 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23422 |
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