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Table 2 Identified mutations

From: Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders

GeneExonNucleotide mutationsAllele stateProtein effectdbSNP IDMutation typePhenotype
PMM23c.241-242delhetp.L82Vfs*2novelframeshiftcongenital disorder of glycosylation
PMM25c.395 T > Chetp.I132Tknownnonsynonymous