Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
41IVS1c.265-3C>T N-terminalSplice acceptor siteNDGEFS+Familial(Maternal)Zuberi SM.2011



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
5c.265-3C>TND(DIS3)Splice acceptor siteGEFS+NA (Maternal) Zuberi SM.2011



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