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Likely inborn error of metabolism - targeted testing not possible v1.47 | NUP62 |
Ivone Leong Source NHS GMS was added to NUP62. Source London North GLH was added to NUP62. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | NUP62 |
Ellen McDonagh gene: NUP62 was added gene: NUP62 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP62 were set to 27604308 Phenotypes for gene: NUP62 were set to Infantile striatal necrosis (Other metabolic disorders); Striatonigral degeneration, infantile, 271930 |