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| Groopman et al 2019 - Genes with diagnostic variants v0.4 | SLC7A9 | Eleanor Williams reviewed gene: SLC7A9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.3 | SLC7A9 | Eleanor Williams Source Expert Review Red was added to SLC7A9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.2 | SLC7A9 |
Eleanor Williams gene: SLC7A9 was added gene: SLC7A9 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SLC7A9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC7A9 were set to Tubulointerstitial disease; Cystinuria; MIM 220100 |
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