248200.9

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Country

United Arab Emirates

HPO Terms

Macular atrophy; Reduced visual acuity
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Sex

Male

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000350.3:c.4328G>A1
NM_000350.3:c.2657del1
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Remarks

Patient '21' in the publication

References

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