Activity
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3 actions
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| Mendeliome v0.3521 | BRAP | Zornitza Stark Marked gene: BRAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3521 | BRAP | Zornitza Stark Gene: brap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3521 | BRAP |
Zornitza Stark gene: BRAP was added gene: BRAP was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: BRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRAP were set to 30703135 Phenotypes for gene: BRAP were set to Pulmonary arterial hypertension Review for gene: BRAP was set to RED Added comment: A single BRAP missense variant in a Japanese family with PAH, with in vitro functional assays suggesting a gain-of-function. Sources: Expert list |
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