Details for Combination OLI1324

VARIANTS BMP4:c.124G>C, p.Ala42Pro in Heterozygous form; GNRH1:c.217C>T, p.Arg73Ter in Heterozygous form; SRA1:c.94C>G, p.Gln32Glu in Heterozygous form
GENE COMBINATION BMP4; GNRH1; SRA1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Non-acquired combined pituitary hormone deficiency
REFERENCES 35805171
SCORES
FAMmanual
1

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
101

FUN
manualmeta
11

FINAL
manualmeta
10


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