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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H02730 | Severe congenital liver disease | ... syndrome characterized by severe neonatal liver cirrhosis. The recessive loss-of-function mutations in FOCAD cause this disease. It has been suggested that FOCAD deficiency impairs the SKI mRNA surveillance ... | Digestive system disease | FOCAD [HSA:54914] [KO:K27498] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |