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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PIGN |
Ivone Leong Source NHS GMS was added to PIGN. Source London North GLH was added to PIGN. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGN |
Ellen McDonagh Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1 for gene: PIGN Publications for gene PIGN were changed from 27604308 to 26419326; 21493957 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGN |
Ellen McDonagh gene: PIGN was added gene: PIGN was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGN were set to 27604308 Phenotypes for gene: PIGN were set to PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
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