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203500.1
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Subject Details
Country
Algeria
HPO Terms
Ochronosis; Arthropathy;
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Sex
Male
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000187.3:c.1221G>A
1
Alkaptonuria
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Remarks
Has two affected sons; Compound heterozygote; second mutation unknown
References
Ladjouze-Rezig et al. 2006
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