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| Undiagnosed metabolic disorders v1.395 | MRPL12 |
Catherine Snow gene: MRPL12 was added gene: MRPL12 was added to Undiagnosed metabolic disorders. Sources: Expert list Mode of inheritance for gene: MRPL12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL12 were set to 23603806 Phenotypes for gene: MRPL12 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis) Review for gene: MRPL12 was set to RED Added comment: A single reported family in the literature therefore classified as Red. Sources: Expert list |
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