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219700.67
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Subject Details
Country
Lebanon
HPO Terms
Elevated sweat chloride; Failure to thrive; Hypokalemic metabolic alkalosis; Hyponatremia
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Sex
Female
Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000492.3:c.3717+1G>A
1
NA
Cystic Fibrosis
NM_000492.3:c.4251del
1
NA
Cystic Fibrosis
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Remarks
Patient's mother has protein S deficiency.
References
A and 4382delA compound heterozygosity. Acta Paediatr. 2011 Nov;100(11):e234-5.' data-placement='top' style='cursor:pointer;opacity:1;'>El-Rifai et al, 2011
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