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| Likely inborn error of metabolism - targeted testing not possible v1.47 | SRD5A3 |
Ivone Leong Source NHS GMS was added to SRD5A3. Source London North GLH was added to SRD5A3. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SRD5A3 |
Ellen McDonagh Added phenotypes SRD5A3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Iq 612379 for gene: SRD5A3 Publications for gene SRD5A3 were changed from 27480077 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | SRD5A3 |
Ellen McDonagh gene: SRD5A3 was added gene: SRD5A3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SRD5A3 were set to 27480077 Phenotypes for gene: SRD5A3 were set to SRD5A3-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Iq 612379 |
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