207900.1

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Country

Saudi Arabia

HPO Terms

Elevated plasma citrulline
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Sex

Unknown

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000048.4:c.343G>T1NA
NM_000048.4:c.556C>T1NA
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Remarks

Compound heterozygous patient

References

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