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| Pulmonary fibrosis familial v0.2 | DKC1 | Arina Puzriakova reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary fibrosis familial v0.1 | DKC1 |
Arina Puzriakova gene: DKC1 was added gene: DKC1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DKC1 were set to 21415081; 9590285; 24504062; 30868555; 23946118 Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, OMIM:305000 |
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