219700.17

Country

Lebanon

HPO Terms

Abnormality of the respiratory system; Exocrine pancreatic insufficiency
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Sex

Female

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.4:c.1520_1522del1NA
NM_000492.3:c.3846G>A1NA

Remarks

Compound heterozygous patient from family '275' in the publication
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