Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
383IVS12c.2177-11dupT DI-DIISplice acceptor siteNDGEFS+2Familial(Paternal&Maternal,asympt)Mrabet H.2007



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
42c.2177-11dupTND(DI-DII)Splice acceptor siteGEFS+No symptom (Paternal&Maternal) 2 Mrabet H.2007



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