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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGT |
Ellen McDonagh Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 for gene: PIGT Publications for gene PIGT were changed from 28327575 to 23636107; 28327575 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PIGT |
Ellen McDonagh gene: PIGT was added gene: PIGT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGT were set to 28327575 Phenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3 |