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| Aminoacidopathy v1.105 | SLC7A9 | Zornitza Stark Marked gene: SLC7A9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.105 | SLC7A9 | Zornitza Stark Gene: slc7a9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.105 | SLC7A9 | Zornitza Stark Classified gene: SLC7A9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.105 | SLC7A9 | Zornitza Stark Gene: slc7a9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.95 | SLC7A9 |
Sangavi Sivagnanasundram gene: SLC7A9 was added gene: SLC7A9 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC7A9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A9 were set to 23532419; 16609684; 25296721; 11157794; 10471498 Phenotypes for gene: SLC7A9 were set to cystinuria MONDO:0009067 Review for gene: SLC7A9 was set to GREEN Added comment: Established gene-disease association with reported individuals having errors in amino acid transport and metabolism. Classified Definitive by Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:006202 Sources: ClinGen |
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