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| Paediatric or syndromic cardiomyopathy v0.16 | MRPL44 | Ivone Leong reviewed gene: MRPL44: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | MRPL44 | Ivone Leong Source NHS GMS was added to MRPL44. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.1 | MRPL44 |
Ivone Leong gene: MRPL44 was added gene: MRPL44 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH Mode of inheritance for gene: MRPL44 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPL44 were set to ?Combined oxidative phosphorylation deficiency 16, 615395; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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