Activity
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2 actions
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| DDG2P v6.17 | EFL1 | Achchuthan Shanmugasundram reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31151987, 29970384, 28331068; Phenotypes: EFL1-related Shwachman-Diamond syndrome, MONDO:0044205, OMIM:617941.0; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | EFL1 |
Achchuthan Shanmugasundram gene: EFL1 was added gene: EFL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFL1 were set to 31151987; 29970384; 28331068 Phenotypes for gene: EFL1 were set to MONDO:0044205; OMIM:617941.0; EFL1-related Shwachman-Diamond syndrome |
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