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| Muscular dystrophy and myopathy_Paediatric v1.65 | EXOSC3 | Zornitza Stark Marked gene: EXOSC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.65 | EXOSC3 | Zornitza Stark Gene: exosc3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.49 | EXOSC3 |
Bryony Thompson gene: EXOSC3 was added gene: EXOSC3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC3 were set to 30025162; 38982518 Phenotypes for gene: EXOSC3 were set to congenital myopathy MONDO:0019952 Review for gene: EXOSC3 was set to RED Added comment: A single case reported with congenital myopathy as a feature of the condition (also including PCH). Sources: Literature |
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