Article details

Kim et al. Nature 2013;494:105-110.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
PKP210R672fsX683c.2013delCp.Lys672ArgfsX12 0/0 TFC+   Mutation details
PKP212G828Gc.2484C>Tr.2483_2489del 0/0   Homozygous mutation carrier. See Awad et al., 2006. Mutation details