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163950.1
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Subject Details
Country
Lebanon
HPO Terms
Stillbirth; Wide nasal bridge; Depressed nasal bridge; Generalized edema
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_002834.4:c.417G>C
1
Noonan Syndrome 1
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Remarks
Deceased fetus
References
Nair et al. 2018
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