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215045.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Micromelia
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Sex
Male
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000316.3:c.109C>A
2
NA
Chondrodysplasia, Blomstrand Type
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References
Maddirevula et al. 2018
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