Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1014332.RA_qdXB1u3KRGlwBZZtsKM_OHskEIQJ2M6mZ6Y57VNzEg130_assertion> ?p ?o ?g. }
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- NP1014332.RA_qdXB1u3KRGlwBZZtsKM_OHskEIQJ2M6mZ6Y57VNzEg130_assertion type Assertion NP1014332.RA_qdXB1u3KRGlwBZZtsKM_OHskEIQJ2M6mZ6Y57VNzEg130_head.
- NP1014332.RA_qdXB1u3KRGlwBZZtsKM_OHskEIQJ2M6mZ6Y57VNzEg130_assertion description "[The current clinical findings and deletion of BMPR1A indicate a diagnosis of severe juvenile polyposis, but the existing macrocephaly and PTEN deletion also point to either CS or BRRS, which cannot be ruled out at the moment because of their clinical manifestation later in life and the de novo character of the deletion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1014332.RA_qdXB1u3KRGlwBZZtsKM_OHskEIQJ2M6mZ6Y57VNzEg130_provenance.
- NP1014332.RA_qdXB1u3KRGlwBZZtsKM_OHskEIQJ2M6mZ6Y57VNzEg130_assertion evidence source_evidence_literature NP1014332.RA_qdXB1u3KRGlwBZZtsKM_OHskEIQJ2M6mZ6Y57VNzEg130_provenance.
- NP1014332.RA_qdXB1u3KRGlwBZZtsKM_OHskEIQJ2M6mZ6Y57VNzEg130_assertion SIO_000772 22993021 NP1014332.RA_qdXB1u3KRGlwBZZtsKM_OHskEIQJ2M6mZ6Y57VNzEg130_provenance.
- NP1014332.RA_qdXB1u3KRGlwBZZtsKM_OHskEIQJ2M6mZ6Y57VNzEg130_assertion wasDerivedFrom befree-2016 NP1014332.RA_qdXB1u3KRGlwBZZtsKM_OHskEIQJ2M6mZ6Y57VNzEg130_provenance.
- NP1014332.RA_qdXB1u3KRGlwBZZtsKM_OHskEIQJ2M6mZ6Y57VNzEg130_assertion wasGeneratedBy ECO_0000203 NP1014332.RA_qdXB1u3KRGlwBZZtsKM_OHskEIQJ2M6mZ6Y57VNzEg130_provenance.