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| Mitochondrial DNA maintenance disorder v0.3 | RNASEH1 | Ivone Leong reviewed gene: RNASEH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial DNA maintenance disorder v0.2 | RNASEH1 |
Ivone Leong gene: RNASEH1 was added gene: RNASEH1 was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RNASEH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH1 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 |
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