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614328.1.3
Home
Subject Details
Country
Lebanon
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Sex
Female
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_003183.5:c.603_606delCAGA
1
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Remarks
Mother of 614328.1.1
References
Blaydon et al, 2011
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
614328.1.1
Lebanon
Bloody diarrhea; Erythema; Neonatal onset;
Female
Yes
Yes
614328.1.2
Lebanon
Bloody diarrhea; Erythema; Neonatal onset;
Male
Yes
Yes
Brother of 614328.1.1
614328.1.4
Lebanon
Male
Father of 614328.1.1
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