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| Miscellaneous Metabolic Disorders v0.342 | SLC27A5 | Bryony Thompson Marked gene: SLC27A5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.342 | SLC27A5 | Bryony Thompson Gene: slc27a5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.342 | SLC27A5 |
Bryony Thompson gene: SLC27A5 was added gene: SLC27A5 was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC27A5 were set to 22089923; 27604308 Phenotypes for gene: SLC27A5 were set to Bile acid-CoA ligase deficiency; Disorders of bile acid biosynthesis Review for gene: SLC27A5 was set to RED Added comment: 2 siblings with a bile acid phenotype in a single consanguineous family with a homozygous variant. Sources: Literature |
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