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613217.18.2
Home
Subject Details
Country
Qatar
HPO Terms
Intractable diarrhea
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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_002354.3:c.499dup
2
Diarrhea 5, with Tufting Enteropathy, Congenital
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Remarks
Relative of 613217.18.1
References
Pathak et al. 2019;
Salomon et al. 2014
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
613217.18.1
Qatar
Intractable diarrhea
Female
Yes
Yes
Back to search Result
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