Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B05e5d5394e22ed9ba8827fc8e3d8f7dc> ?p ?o ?g. }
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- B05e5d5394e22ed9ba8827fc8e3d8f7dc hasDbXref "PMID:21266384" @default.
- B05e5d5394e22ed9ba8827fc8e3d8f7dc hasDbXref "PMID:24761742" @default.
- B05e5d5394e22ed9ba8827fc8e3d8f7dc hasDbXref "PMID:34599283" @default.
- B05e5d5394e22ed9ba8827fc8e3d8f7dc hasDbXref "https://clinicalgenome.org/affiliation/40023/" @default.
- B05e5d5394e22ed9ba8827fc8e3d8f7dc hasDbXref "https://clinicalgenome.org/affiliation/50050/" @default.
- B05e5d5394e22ed9ba8827fc8e3d8f7dc type Axiom @default.
- B05e5d5394e22ed9ba8827fc8e3d8f7dc annotatedProperty IAO_0000115 @default.
- B05e5d5394e22ed9ba8827fc8e3d8f7dc annotatedSource MONDO_0100216 @default.
- B05e5d5394e22ed9ba8827fc8e3d8f7dc annotatedTarget "Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described." @default.