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225400.6
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Subject Details
Country
United Arab Emirates
HPO Terms
Heart murmur; Congenital contracture
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Sex
Female
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000302.4:c.955C>T
2
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
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References
Mahfouz et al. 2020
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