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219700.74
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Pancytopenia; Cirrhosis; Bronchiectasis; Splenomegaly; Growth delay; Intellectual disability
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Sex
Male
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Associated Disease
NM_000492.3:c.2988+1G>A
2
Cystic Fibrosis
NM_001369.2:c.2821G>A
1
NM_001283009.1:c.173C>G
1
Download Table
References
Alsamri et al. 2020
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Back to search Result
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العربية
About Us
News
Fellowships
العربية
Home
About Us
CTGA Database
CTGA Overview
Search Database
Submit to Database
Publications
Research Articles
Genetics Made Easy
Genetic Disorders in the Arab World
Reports
Conferences & Events
News
Gallery
Fellowships
Contact Us