Details for Combination OLI1366

VARIANTS BMP2: in Heterozygous form; SMAD6: in Heterozygous form
GENE COMBINATION BMP2; SMAD6
OLIGOGENIC EFFECT True Digenic
ETHNICITY European
OMIM IDS 614485; 190440
DISEASES Non-syndromic metopic craniosynostosis
REFERENCES 27606499
SCORES
FAMmanual
2

STAT
manualknowledgemeta
200

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
10


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