615066.2

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Country

Saudi Arabia

HPO Terms

Recurrent fractures; Bowing of the legs
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA2NA
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References

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