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236250.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Seizure; Progressive leukoencephalopathy; Cerebral venous thrombosis; Homocystinuria; Hypomethioninemia
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_005957.5:c.1596C>G
2
Homocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity
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References
Al-Shamsi et al. 2016
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