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Likely inborn error of metabolism - targeted testing not possible v1.47 CTNS Ivone Leong Source NHS GMS was added to CTNS.
Source London North GLH was added to CTNS.
Likely inborn error of metabolism - targeted testing not possible v0.4 CTNS Ellen McDonagh gene: CTNS was added
gene: CTNS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNS were set to 219750
Phenotypes for gene: CTNS were set to Cystinosis, atypical nephropathic