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| Likely inborn error of metabolism - targeted testing not possible v1.47 | GFPT1 |
Ivone Leong Source NHS GMS was added to GFPT1. Source London North GLH was added to GFPT1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | GFPT1 |
Ellen McDonagh Added phenotypes Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) for gene: GFPT1 Publications for gene GFPT1 were changed from 23569079 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | GFPT1 |
Ellen McDonagh gene: GFPT1 was added gene: GFPT1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFPT1 were set to 23569079 Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542 |
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