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| Likely inborn error of metabolism - targeted testing not possible v0.4 | RNASEH1 | Ellen McDonagh Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 for gene: RNASEH1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | RNASEH1 |
Ellen McDonagh gene: RNASEH1 was added gene: RNASEH1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RNASEH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH1 were set to Reyes et al., 2005, Am. J. Hum. Genet., 97, 186-193. Phenotypes for gene: RNASEH1 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 |
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