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| Cerebral vascular malformations v0.0 | NOTCH3 |
Zornitza Stark gene: NOTCH3 was added gene: NOTCH3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NOTCH3 were set to 20301673; 8878478 Phenotypes for gene: NOTCH3 were set to Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy (CADASIL); Moyamoya disease; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy; Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Mode of pathogenicity for gene: NOTCH3 was set to Other - please provide details in the comments |
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