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219700.72
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Subject Details
Country
Lebanon
HPO Terms
Elevated sweat chloride
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Sex
Male
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000492.3:c.1911del
2
2.5
Cystic Fibrosis
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Remarks
CF patient from family '8' in the publication
References
Farra et al, 2010
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