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Filters: Keyword is Mutation, Missense and Author is Lewis, Richard Alan [Clear All Filters]
Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011 ;17:3529-40..
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 ;14:83..