261600.7

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Country

Lebanon

HPO Terms

Hyperphenylalaninemia
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Sex

Unknown

Family History

No

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000277.3:c.266_267insG1
NM_000277.3:c.60+5G>T1
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Remarks

Diagnosed through NBS

References

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