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253000.3
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Subject Details
Country
Saudi Arabia
HPO Terms
Pectus carinatum; Short stature
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Sex
Female
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000512.5:c.346G>A
2
NA
Mucopolysaccharidosis Type IVA
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References
Maddirevula et al. 2018
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