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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PYGL |
Ivone Leong Source NHS GMS was added to PYGL. Source London North GLH was added to PYGL. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PYGL |
Ellen McDonagh gene: PYGL was added gene: PYGL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGL were set to 27604308 Phenotypes for gene: PYGL were set to Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease VI, 232700; hepatomegaly and mild hypoglycaemia; Glycogen Storage Disease Type VI; Glycogen storage disease type VI, Hers (Glycogen storage disorders) |
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