Details for Combination OLI077

VARIANTS LMNA:c.892C>T, p.Arg298Cys in Homozygous form; EMD:c.110_112delAGA, p.Lys37del in Hemizygous form
GENE COMBINATION EMD; LMNA
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY Algerian
OMIM IDS 300696; 616516; 310300; 612999; 614302; 181350; 612998
DISEASES Emery-Dreifuss muscular dystrophy
REFERENCES 17536044
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
212

FUN
manualmeta
22

FINAL
manualmeta
22


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