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236200.2
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Subject Details
Country
Bahrain
HPO Terms
Hyperhomocystinemia
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000071.3:c.1039G>A
2
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency
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Remarks
Patient from Qatar of Bahraini descent
References
Gan-Schreier et al. 2010
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