613985.G.4

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Country

Algeria

HPO Terms

Anemia; Fatigue; Pallor
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Sex

Unknown

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000518.5:c.20del1NA
NM_000518.5:c.92+2T>CNA
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Remarks

Mutations identified in seven patients with beta-thalassemia

References

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