Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
2538c.1130G>Ap.Arg377GlnDIS5-S6MissenseP/﹢→P/O (43)GEFS+Familial(Maternal)Zucca C.2008



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
30c.1130G>Ap.Arg377Gln(DIS5-S6)MissenseGEFS+NA (Maternal) Zucca C.2008



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