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617993.G.1
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Subject Details
Country
Palestine
HPO Terms
Calcinosis; Hyperphosphatemia
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Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_020638.3:c.386C>T
10
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
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Remarks
5 patients from the same Palestinian clan
References
Shawar et al. 2016
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