Activity
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3 actions
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| Malignant hyperthermia v0.4 | STAC3 | Arina Puzriakova reviewed gene: STAC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant hyperthermia v0.4 | STAC3 | Arina Puzriakova Source NHS GMS was added to STAC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Malignant hyperthermia v0.1 | STAC3 |
Arina Puzriakova gene: STAC3 was added gene: STAC3 was added to Malignant hyperthermia. Sources: Expert Review Green Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to 31559918; 18553514; 30168660 Phenotypes for gene: STAC3 were set to Myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia; Myopathy, congenital, Baily-Bloch, OMIM:255995 |
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