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608022.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Abnormal vertebral morphology
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_133468.5:c.712T>G
2
Diaphanospondylodysostosis
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References
Monies et al. 2017
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