Activity
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6 actions
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| Genetic Epilepsy v0.2159 | KPNA7 | Elena Savva Phenotypes for gene: KPNA7 were changed from severe neurodevelopmental defects; epilepsy to Neurodevelopmental disorder (MONDO#0700092), KPNA7-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1354 | KPNA7 | Zornitza Stark Marked gene: KPNA7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1354 | KPNA7 | Zornitza Stark Gene: kpna7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1354 | KPNA7 | Zornitza Stark Classified gene: KPNA7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1354 | KPNA7 | Zornitza Stark Gene: kpna7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1353 | KPNA7 |
Ain Roesley gene: KPNA7 was added gene: KPNA7 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: KPNA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KPNA7 were set to 24045845; 32179771 Phenotypes for gene: KPNA7 were set to severe neurodevelopmental defects; epilepsy Penetrance for gene: KPNA7 were set to unknown Review for gene: KPNA7 was set to RED gene: KPNA7 was marked as current diagnostic Added comment: 1 fam with 2 siblings. Functional showed disruptions to CTCF binding Sources: Literature |
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