Activity
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2 actions
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| Likely inborn error of metabolism v1.47 | GNPTAB |
Ivone Leong Source NHS GMS was added to GNPTAB. Source London North GLH was added to GNPTAB. |
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| Likely inborn error of metabolism v0.4 | GNPTAB |
Ellen McDonagh gene: GNPTAB was added gene: GNPTAB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPTAB were set to 27604308 Phenotypes for gene: GNPTAB were set to Mucolipidosis, Type II; Mucolipidosis, Type III Alpha/Beta; Mucolipidosis III alpha/beta; Mucolipidosis II, I-cell disease (Other lysosomal disorders); Mucolipidosis II alpha/beta |
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