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166210.2
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Subject Details
Country
Saudi Arabia
HPO Terms
Lethal skeletal dysplasia
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000089.4:c.1747G>C
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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