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| Cardiomyopathy_Paediatric v0.0 | PTPN11 |
Zornitza Stark gene: PTPN11 was added gene: PTPN11 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN11 were set to 16263833; 12634870; 18678287; 15384080; 15240615; 11704759; 17603483; 17497712; 12529711 Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1; Noonan syndrome 1 163950; LEOPARD syndrome 1 151100; syndromic HCM; Noonan syndrome 1; LEOPARD syndrome; Noonan syndrome Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments |
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