231670.G.1

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Country

United Arab Emirates

HPO Terms

Elevated circulating glutaric acid concentration
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Sex

Unknown

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000159.4:c.242C>T2
NM_000159.4:c.427G>A2
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Remarks

Mutations identified in two Emirati patients

References

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