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| Fetal anomalies v0.4259 | RPH3A | Zornitza Stark Marked gene: RPH3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4259 | RPH3A | Zornitza Stark Gene: rph3a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4259 | RPH3A | Zornitza Stark Classified gene: RPH3A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4259 | RPH3A | Zornitza Stark Gene: rph3a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4251 | RPH3A |
Belinda Chong gene: RPH3A was added gene: RPH3A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RPH3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPH3A were set to 29441694 Phenotypes for gene: RPH3A were set to Congenital myasthenic syndrome Review for gene: RPH3A was set to RED gene: RPH3A was marked as current diagnostic Added comment: Only one patient with a complex phenotype that included myasthenia, with compound het missense variants, of which only one variant had plausible functional expression data. Sources: Literature |
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