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606054.5
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Subject Details
Country
United Arab Emirates
HPO Terms
Propionyl-CoA carboxylase deficiency
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000532.5:c.1519C>T
2
NA
Propionic Acidemia
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References
Al-Jasmi at al. 2016
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