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219700.14
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Subject Details
Country
Lebanon
HPO Terms
Abnormality of the respiratory system; Exocrine pancreatic insufficiency; Failure to thrive
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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_000492.3:c.3846G>A
2
NA
Cystic Fibrosis
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Remarks
Patient from family '272' in the publication
References
Desgeorges et al. 1997
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