Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
99126c.4888G>Cp.Val1630LeuDIVS3-S4MissenseN→N (32)SMEBNAWang JW.2012
SMEBFamilial(Maternal)Wang JW.2012
SME+AENAOkumura A.2012



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
103c.4888G>Cp.Val1630Leu(DIVS3-S4)MissenseSMEBNA(Maternal) Wang JW.2012



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