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235550.4
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Subject Details
Country
Lebanon
HPO Terms
Abnormality of the liver
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Sex
Male
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_080424.2:c.642del
2
NA
Hepatic Venoocclusive Disease with Immunodeficiency
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Remarks
Patient 'D II.1' in the publication
References
Roscioli et al. 2006
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