600901.1

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Country

Lebanon

HPO Terms

Pancytopenia; Growth delay; Ectopic kidney; Chromosomal breakage induced by crosslinking agents
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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_021922.3:c.334del2
NM_004629.2:c.181C>T1
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References

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