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| Likely inborn error of metabolism - targeted testing not possible v1.47 | NPC2 |
Ivone Leong Source NHS GMS was added to NPC2. Source London North GLH was added to NPC2. |
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| Likely inborn error of metabolism - targeted testing not possible v1.28 | NPC2 | Louise Daugherty Phenotypes for gene: NPC2 were changed from to Niemann-Pick disease type C2, 607625 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | NPC2 |
Ellen McDonagh gene: NPC2 was added gene: NPC2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPC2 were set to 27604308 |
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