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610168.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Abnormal aortic morphology; Joint laxity
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_003242.6:c.1301T>A
1
Loeys-Dietz Syndrome 2
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Remarks
de novo mutation
References
Monies et al. 2019
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