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Likely inborn error of metabolism - targeted testing not possible v1.47 | MAN1B1 |
Ivone Leong Source NHS GMS was added to MAN1B1. Source London North GLH was added to MAN1B1. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MAN1B1 |
Ellen McDonagh Added phenotypes MAN1B1-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 15 614202 for gene: MAN1B1 Publications for gene MAN1B1 were changed from 24348268 to 27604308 |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | MAN1B1 |
Ellen McDonagh gene: MAN1B1 was added gene: MAN1B1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN1B1 were set to 24348268 Phenotypes for gene: MAN1B1 were set to MAN1B1-CDG (Disorders of protein N-glycosylation); Mental retardation, autosomal recessive 15 614202 |