Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing ~ Medizin - Open Access LMU

Next generation sequencing has become the core technology for gene
discovery in rare inherited disorders. However, the interpretation
of the numerous sequence variants identified remains challenging.
We assessed the application of exome sequencing for diagnostics in
complex I deficiency, a disease with vast genetic heterogeneity.

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

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