Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | HIBCH |
Ivone Leong Source NHS GMS was added to HIBCH. Source London North GLH was added to HIBCH. |
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| Likely inborn error of metabolism v0.4 | HIBCH |
Ellen McDonagh Added phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620; HIBCH deficiency; Methacrylic aciduria (Organic acidurias) for gene: HIBCH Publications for gene HIBCH were changed from 24299452; PMID: 25251209 to 27604308 |
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| Likely inborn error of metabolism v0.4 | HIBCH |
Ellen McDonagh gene: HIBCH was added gene: HIBCH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIBCH were set to 24299452; PMID: 25251209 Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620; HIBCH deficiency |
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