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| Aminoacidopathy v1.110 | SLC3A1 | Zornitza Stark Marked gene: SLC3A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.110 | SLC3A1 | Zornitza Stark Gene: slc3a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.110 | SLC3A1 | Zornitza Stark Classified gene: SLC3A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.110 | SLC3A1 | Zornitza Stark Gene: slc3a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.95 | SLC3A1 |
Sangavi Sivagnanasundram gene: SLC3A1 was added gene: SLC3A1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC3A1 were set to 8054986; 16374432; 8486766 Phenotypes for gene: SLC3A1 were set to cystinuria MONDO:0009067 Review for gene: SLC3A1 was set to GREEN Added comment: Established gene-disease association with reported individuals having biochemical abnormalities affecting cystine transportation. Classified Definitive by Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:006188 Sources: ClinGen |
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