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| Groopman et al 2019 - Genes with diagnostic variants v0.4 | SLC16A12 | Eleanor Williams reviewed gene: SLC16A12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.3 | SLC16A12 | Eleanor Williams Source Expert Review Red was added to SLC16A12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.2 | SLC16A12 |
Eleanor Williams gene: SLC16A12 was added gene: SLC16A12 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC16A12 were set to Tubulointerstitial disease; MIM 612018; Cataract 47 juvenile with microcornea |
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