Activity
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| DDG2P v6.17 | PACSIN3 | Achchuthan Shanmugasundram reviewed gene: PACSIN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29202928, 38637313; Phenotypes: PACSIN3-related childhood-onset myopathy with hyperCKaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | PACSIN3 |
Achchuthan Shanmugasundram gene: PACSIN3 was added gene: PACSIN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PACSIN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PACSIN3 were set to 29202928; 38637313 Phenotypes for gene: PACSIN3 were set to PACSIN3-related childhood-onset myopathy with hyperCKaemia |
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