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- B9f4520a9d6fda7b7e8dc5807b4153bcc hasDbXref "GARD:0001108" @default.
- B9f4520a9d6fda7b7e8dc5807b4153bcc type Axiom @default.
- B9f4520a9d6fda7b7e8dc5807b4153bcc annotatedProperty IAO_0000115 @default.
- B9f4520a9d6fda7b7e8dc5807b4153bcc annotatedSource MONDO_0022648 @default.
- B9f4520a9d6fda7b7e8dc5807b4153bcc annotatedTarget "A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms." @default.