Activity
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| DDG2P v6.17 | NUP188 | Achchuthan Shanmugasundram reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: ; Publications: 32275884, 32021605; Phenotypes: NUP188-related neurodegeneration, cataracts and facial dysmorphisms, OMIM:618804.0, MONDO:0032926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | NUP188 |
Achchuthan Shanmugasundram gene: NUP188 was added gene: NUP188 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP188 were set to 32021605; 32275884 Phenotypes for gene: NUP188 were set to OMIM:618804.0; NUP188-related neurodegeneration, cataracts and facial dysmorphisms; MONDO:0032926 |
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