219700.57

Country

Saudi Arabia

HPO Terms

Elevated sweat chloride; Exocrine pancreatic insufficiency
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Sex

Male

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.3:c.1418del1NA
NM_000492.3:c.3909C>G1NA

Remarks

Patient number 'CF32' in the publication, compound heterozygous patient
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