219700.1

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Country

Bahrain

HPO Terms

Failure to thrive; Exocrine pancreatic insufficiency;
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Sex

Unknown

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000492.3:c.416A>T1NA
NM_000492.3:c.2988+1G>A1NA
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Remarks

Compound heterozygous patient

References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.