Activity
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2 actions
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| DDG2P v6.17 | SNUPN | Achchuthan Shanmugasundram reviewed gene: SNUPN: Rating: GREEN; Mode of pathogenicity: ; Publications: 38413582, 38366623; Phenotypes: SNUPN-related muscular dystrophy with or without multi-system involvement, MONDO:0971171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | SNUPN |
Achchuthan Shanmugasundram gene: SNUPN was added gene: SNUPN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNUPN were set to 38366623; 38413582 Phenotypes for gene: SNUPN were set to SNUPN-related muscular dystrophy with or without multi-system involvement; MONDO:0971171 |
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