219700.11

Country

Lebanon

HPO Terms

Abnormality of the respiratory system; Exocrine pancreatic insufficiency; Recurrent upper respiratory tract infections
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Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.3:c.11C>A1NA
NM_000492.3:c.2657+5G>A1NA

Remarks

Compound heterozygous patient from family '257' in the publication, patient's father is Libiyan
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