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200610.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Skeletal dysplasia; Short stature
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Sex
Male
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001844.5:c.1043G>A
1
NA
Achondrogenesis, Type II
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Remarks
De novo mutation
References
Maddirevula et al. 2018
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