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MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease

BACKGROUND: Human mitochondrial DNA (mtDNA) variations have been implicated in a broad spectrum of diseases. With over 3000 mtDNA variations reported across databases, establishing pathogenicity of variations in mtDNA is a major challenge. We have designed and developed a comprehensive weighted scor...

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Detalles Bibliográficos
Autores principales:	Bhardwaj, Anshu, Mukerji, Mitali, Sharma, Shipra, Paul, Jinny, Gokhale, Chaitanya S, Srivastava, Achal K, Tiwari, Shrish
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2009
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2745589/ https://www.ncbi.nlm.nih.gov/pubmed/19758471 http://dx.doi.org/10.1186/1471-2105-10-S8-S7

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