Activity
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2 actions
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| Likely inborn error of metabolism v1.47 | HGSNAT |
Ivone Leong Source NHS GMS was added to HGSNAT. Source London North GLH was added to HGSNAT. |
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| Likely inborn error of metabolism v0.4 | HGSNAT |
Ellen McDonagh gene: HGSNAT was added gene: HGSNAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGSNAT were set to 27604308 Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis Type III; Mucopolysaccharidosis, Type III; Retinitis Pigmentosa 73; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Mucopolysaccharidosis Type IIIC; MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses) |
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