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| Mendeliome v1.1539 | TNRC6A | Elena Savva Marked gene: TNRC6A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1539 | TNRC6A | Elena Savva Gene: tnrc6a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1539 | TNRC6A |
Elena Savva gene: TNRC6A was added gene: TNRC6A was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TNRC6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNRC6A were set to PMID: 29507423; 33040085 Phenotypes for gene: TNRC6A were set to ?Epilepsy, familial adult myoclonic, 6 MIM#618074 Review for gene: TNRC6A was set to RED Added comment: PMID: 29507423;33040085 - intronic expansion in a cohort with familial myoclonic epilepsy, also observed in controls but enriched in the affect cohort. Gene was listed in the Oliver list Sources: Literature |
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