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268300.1
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Congenital onset
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001017420.3:c.1132-7A>G
2
Roberts-SC Phocomelia Syndrome
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References
Monies et al. 2017
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