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| Mendeliome v1.2213 | GTF3A | Bryony Thompson Marked gene: GTF3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2213 | GTF3A | Bryony Thompson Gene: gtf3a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2213 | GTF3A |
Bryony Thompson gene: GTF3A was added gene: GTF3A was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: GTF3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF3A were set to 36399538 Phenotypes for gene: GTF3A were set to herpes simplex encephalitis MONDO:0012521 Review for gene: GTF3A was set to RED Added comment: A single case is reported with common variable immunodeficiency and HSE, and some supporting functional assays. Sources: Expert list |
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