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| Ductal plate malformation v0.27 | DKC1 |
Ivone Leong Source Expert Review Red was added to DKC1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Ductal plate malformation v0.26 | DKC1 | Ivone Leong reviewed gene: DKC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ductal plate malformation v0.2 | DKC1 |
Ivone Leong gene: DKC1 was added gene: DKC1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked (305000) |
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