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166210.4
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Abnormal skeletal morphology
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000088.4:c.2399G>A
1
Osteogenesis Imperfecta, Type II
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Remarks
Test sample from fetus of unknown sex.
References
Monies et al. 2017
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