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| Cholestasis v0.202 | SLC51B | Zornitza Stark Marked gene: SLC51B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.202 | SLC51B | Zornitza Stark Gene: slc51b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.202 | SLC51B |
Zornitza Stark gene: SLC51B was added gene: SLC51B was added to Cholestasis. Sources: Literature Mode of inheritance for gene: SLC51B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC51B were set to 28898457 Phenotypes for gene: SLC51B were set to Bile acid malabsorption, primary, 2, MIM# 619481; Congenital diarrhoea; Cholestasis Review for gene: SLC51B was set to RED Added comment: Two siblings reported with homozygous LOF variant in this gene and congenital diarrhoea/cholestasis. Sources: Literature |
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