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239000.1.2
Home
Subject Details
Country
Egypt
HPO Terms
Recurrent fractures
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Sex
Male
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_002546.4:c.887dup
2
NA
Paget Disease of Bone 5, Juvenile-Onset
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Remarks
Relative of 239000.1.1
References
Maddirevula et al. 2018
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
239000.1.1
Egypt
Recurrent fractures
Male
Yes
Yes
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