Activity
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5 actions
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| Rasopathy v0.17 | PPP1CB | Zornitza Stark Marked gene: PPP1CB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.17 | PPP1CB | Zornitza Stark Gene: ppp1cb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.17 | PPP1CB | Chirag Patel Classified gene: PPP1CB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.17 | PPP1CB | Chirag Patel Gene: ppp1cb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.16 | PPP1CB |
Chirag Patel gene: PPP1CB was added gene: PPP1CB was added to Rasopathy. Sources: Literature Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP1CB were set to PMID: 32476286; 28211982; 27264673; 27681385; 27868344 Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2; OMIM # 617506 Review for gene: PPP1CB was set to GREEN Added comment: > 20 patients reported from different families and different ethnicities with Noonan syndrome-like features and hair abnormalities. All patients so far with missense variants. Sources: Literature |
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