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Mitochondrial disorders v1.82 MRPS34 Sarah Leigh Marked gene: MRPS34 as ready
Mitochondrial disorders v1.82 MRPS34 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 4 variants reported in 3 unrelated cases.
Mitochondrial disorders v1.82 MRPS34 Sarah Leigh Gene: mrps34 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.82 MRPS34 Sarah Leigh Classified gene: MRPS34 as Green List (high evidence)
Mitochondrial disorders v1.82 MRPS34 Sarah Leigh Gene: mrps34 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.81 MRPS34 Sarah Leigh Phenotypes for gene: MRPS34 were changed from Combined oxidative phosphorylation deficiency 32, MIM#617664 to Combined oxidative phosphorylation deficiency 32 617664
Mitochondrial disorders MRPS34 Zornitza Stark Added gene to panel