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615222.2
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Subject Details
Country
Saudi Arabia
HPO Terms
Short stature
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Sex
Female
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_031296.3:c.136A>C
2
Smith-Mccort Dysplasia 2
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References
Monies et al. 2019
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