Details for Combination OLI1031

VARIANTS LAMA3:c.9400G>C, p.Asp3134His in Heterozygous form; LAMB3:c.1015T>C, p.Tyr339His in Heterozygous form
GENE COMBINATION LAMA3; LAMB3
OLIGOGENIC EFFECT Unknown
ETHNICITY Iranian
OMIM IDS 226700
DISEASES Severe generalized junctional epidermolysis bullosa
REFERENCES 34837689
SCORES
FAMmanual
2

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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