219700.70

Country

Lebanon

HPO Terms

Elevated sweat chloride
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Sex

Male

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.3:c.1624G>T11.3
NM_000492.3:c.1646G>A11.3

Remarks

Compound heterozygous CF patient from family '5' in the publication
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