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| Likely inborn error of metabolism - targeted testing not possible v1.47 | LIAS |
Ivone Leong Source NHS GMS was added to LIAS. Source London North GLH was added to LIAS. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | LIAS |
Ellen McDonagh Added phenotypes Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: LIAS Publications for gene LIAS were changed from to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | LIAS |
Ellen McDonagh gene: LIAS was added gene: LIAS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIAS were set to Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 |
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