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| Likely inborn error of metabolism - targeted testing not possible v1.47 | PHKA1 |
Ivone Leong Source NHS GMS was added to PHKA1. Source London North GLH was added to PHKA1. |
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| Likely inborn error of metabolism - targeted testing not possible v1.29 | PHKA1 | Louise Daugherty Phenotypes for gene: PHKA1 were changed from to Muscle glycogenosis, 300559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | PHKA1 |
Ellen McDonagh gene: PHKA1 was added gene: PHKA1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PHKA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PHKA1 were set to 27604308 |
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