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| Likely inborn error of metabolism - targeted testing not possible v2.324 | ADAR | Arina Puzriakova Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6 to Aicardi-Goutieres syndrome 6, OMIM:615010; Dyschromatosis symmetrica hereditaria, OMIM:127400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | ADAR |
Ivone Leong Source NHS GMS was added to ADAR. Source London North GLH was added to ADAR. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ADAR |
Ellen McDonagh gene: ADAR was added gene: ADAR was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ADAR were set to 27604308; 12916015; 23001123 Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6 |
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