Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
1034c.541G>Tp.Glu181XDIS2-S3NonsenseHaploinsufficiencyGEFS+Familial Orrico A.2009



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
12c.541G>Tp.Glu181X(DIS2-S3)NonsenseGEFS+NA Orrico A.2009



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