Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | PGM1 |
Ivone Leong Source NHS GMS was added to PGM1. Source London North GLH was added to PGM1. |
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| Likely inborn error of metabolism v0.4 | PGM1 |
Ellen McDonagh Added phenotypes Congenital disorder of deglycosylation 615273 for gene: PGM1 Publications for gene PGM1 were changed from 27604308 to 27206562 |
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| Likely inborn error of metabolism v0.4 | PGM1 |
Ellen McDonagh gene: PGM1 was added gene: PGM1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM1 were set to 27604308 Phenotypes for gene: PGM1 were set to Glycogen Storage Disease; Congenital disorder of deglycosylation 615273; Glycogen storage disease type XIV (Glycogen storage disorders); Congenital disorder of glycosylation, type It, 614921; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease Type XIV; Glycogen storage disease XIV, 612934 |
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