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Likely inborn error of metabolism - targeted testing not possible v1.47 | SLC7A7 |
Ivone Leong Source NHS GMS was added to SLC7A7. Source London North GLH was added to SLC7A7. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | SLC7A7 |
Ellen McDonagh gene: SLC7A7 was added gene: SLC7A7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A7 were set to 27604308 Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance (Disorders of amino acid transport); Lysinuric protein intolerance 222700 |