276700.G.8

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Country

Egypt

HPO Terms

Hypertyrosinemia
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Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001374377.1:c.1027G>C6
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Remarks

3 patients from 2 Egyptian families

References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.