Details for Combination OLI791

VARIANTS NEB:c.19101+5G>A, in Homozygous form; MID1IP1:c.297C>G, p.Asn99Lys in Hemizygous form
GENE COMBINATION MID1IP1; NEB
OLIGOGENIC EFFECT Unknown
ETHNICITY Turkish
OMIM IDS N.A.
DISEASES Arthrogryposis syndrome
REFERENCES 31230720
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00
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