Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
52815c.2901G>Tp.Met967IleDIIS6MissenseN→N (10)GEFS+Familial(Maternal,FS),P=1/2Selmer KK.2008



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
55c.2901G>Tp.Met967Ile (DIIS6)MissenseGEFS+FS(Maternal) ≥31/2Selmer KK.2008



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