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276700.G.3
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Subject Details
Country
Saudi Arabia
HPO Terms
Hypertyrosinemia
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001374377.1:c.509G>T
4
Tyrosinemia, Type I
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Remarks
2 patients from 2 Saudi Arabian families
References
Imtiaz et al. 2011
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