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226650.G.4
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Subject Details
Country
Sudan
HPO Terms
Milia; Abnormality of skin pigmentation; Alopecia; Nail dystrophy; Oral mucosal blisters; Genital blistering; Anemia
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Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000494.4:c.3676C>T
Epidermolysis Bullosa, Junctional 1A, Intermediate
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Remarks
Unknown number of patients from 'family 3' in the publication
References
Nakano et al. 2002
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