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| Mendeliome v0.706 | NPM1 | Sue White Marked gene: NPM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.706 | NPM1 | Sue White Gene: npm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.706 | NPM1 | Sue White Classified gene: NPM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.706 | NPM1 | Sue White Gene: npm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.705 | NPM1 |
Sue White gene: NPM1 was added gene: NPM1 was added to Mendeliome_VCGS. Sources: Literature Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NPM1 were set to 31570891 Phenotypes for gene: NPM1 were set to radial ray defects; short stature; nail dsytrophy; bone marrow failure Penetrance for gene: NPM1 were set to unknown Review for gene: NPM1 was set to GREEN Added comment: heterozygous variants cause dyskeratosis congenita Sources: Literature |
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