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| Likely inborn error of metabolism - targeted testing not possible v2.326 | GPHN | Arina Puzriakova Publications for gene: GPHN were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.325 | GPHN | Arina Puzriakova Phenotypes for gene: GPHN were changed from Molybdenum cofactor deficiency C 615501; Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism); epileptic encephalopathy to Molybdenum cofactor deficiency C, OMIM:615501; Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | GPHN |
Ivone Leong Source NHS GMS was added to GPHN. Source London North GLH was added to GPHN. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | GPHN |
Ellen McDonagh gene: GPHN was added gene: GPHN was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GPHN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GPHN were set to 27604308 Phenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C 615501; Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism); epileptic encephalopathy |
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