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235550.7
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Subject Details
Country
Lebanon
HPO Terms
Neonatal respiratory distress; Inappropriate antidiuretic hormone secretion; Leukodystrophy
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Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_080424.2:c.642del
2
Hepatic Venoocclusive Disease with Immunodeficiency
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References
Cliffe et al. 2012
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