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| Likely inborn error of metabolism - targeted testing not possible v2.139 | RPIA | Arina Puzriakova Phenotypes for gene: RPIA were changed from Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism); ?Ribose 5-phosphate isomerase deficiency 608611 to Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism); Ribose 5-phosphate isomerase deficiency, OMIM:608611 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | RPIA |
Ivone Leong Source NHS GMS was added to RPIA. Source London North GLH was added to RPIA. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | RPIA |
Ellen McDonagh gene: RPIA was added gene: RPIA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPIA were set to 27604308; 30088433; 14988808; 28801340 Phenotypes for gene: RPIA were set to Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism); ?Ribose 5-phosphate isomerase deficiency 608611 |
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