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276700.G.2
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Subject Details
Country
Egypt
HPO Terms
Hypertyrosinemia
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Sex
Unknown
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001374377.1:c.364+1G>A
8
Tyrosinemia, Type I
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Remarks
4 patients from Egypt and Saudi Arabia
References
Imtiaz et al. 2011
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