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A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest

Assigning a pathogenic role to mitochondrial DNA (mtDNA) variants and unveiling the potential involvement of the mitochondrial genome in diseases are challenging tasks in human medicine. Assuming that rare variants are more likely to be damaging, we designed a phylogeny-based prioritization workflow...

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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Santorsola, Mariangela, Calabrese, Claudia, Girolimetti, Giulia, Diroma, Maria Angela, Gasparre, Giuseppe, Attimonelli, Marcella
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4698288/
https://ncbi.nlm.nih.gov/pubmed/26621530
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-015-1615-9
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