Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | DLAT |
Ivone Leong Source NHS GMS was added to DLAT. Source London North GLH was added to DLAT. |
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| Likely inborn error of metabolism v0.4 | DLAT |
Ellen McDonagh Added phenotypes Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism); Pyruvate dehydrogenase E2 deficiency, 245348 for gene: DLAT Publications for gene DLAT were changed from to 27604308 |
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| Likely inborn error of metabolism v0.4 | DLAT |
Ellen McDonagh gene: DLAT was added gene: DLAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLAT were set to Pyruvate dehydrogenase E2 deficiency, 245348 |
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