Activity
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3 actions
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| Likely inborn error of metabolism v1.47 | CHST6 |
Ivone Leong Source NHS GMS was added to CHST6. Source London North GLH was added to CHST6. |
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| Likely inborn error of metabolism v0.4 | CHST6 |
Ellen McDonagh Added phenotypes CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Macular corneal dystrophy 217800 for gene: CHST6 Publications for gene CHST6 were changed from 16568029 to 27604308 |
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| Likely inborn error of metabolism v0.4 | CHST6 |
Ellen McDonagh gene: CHST6 was added gene: CHST6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CHST6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHST6 were set to 16568029 Phenotypes for gene: CHST6 were set to CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies); Macular corneal dystrophy 217800 |
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