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141800.G.1
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Subject Details
Country
Algeria
HPO Terms
Asymptomatic
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Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
Mexico NM_000558.5:c.163C>G
160+
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Remarks
A large consanguineous Algerian family with 9 homozygotes and 68 heterozygotes
References
Trabuchet et al. 1977
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