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610967.1
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Recurrent fractures
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Sex
Male
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001025295.3:c.-14C>T
1
NA
Osteogenesis Imperfecta, Type V
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Remarks
De novo mutation
References
Maddirevula et al. 2018
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