Mutation information:
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NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
67519c.3749C>T p.Thr1250Met DIIIS1-S2MissenseP/O→N (81)GEFS+Familial Orrico A.2009
SMENACatarino CB.2011



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
68c.3749C>Tp.Thr1250Met(DIIIS1-S2)MissenseGEFS+NA Orrico A.2009



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