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187600.4
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Subject Details
Country
Saudi Arabia
HPO Terms
Stillbirth; Limb undergrowth
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Sex
Unknown
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000142.5:c.1118A>G
1
Thanatophoric Dysplasia, Type I
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References
Monies et al. 2017
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