Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP670740.RAYcbXGfLHqUfT3M036YMtycnhz7fbxSu7SzUuOb_M2P0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP670740.RAYcbXGfLHqUfT3M036YMtycnhz7fbxSu7SzUuOb_M2P0130_assertion type Assertion NP670740.RAYcbXGfLHqUfT3M036YMtycnhz7fbxSu7SzUuOb_M2P0130_head.
- NP670740.RAYcbXGfLHqUfT3M036YMtycnhz7fbxSu7SzUuOb_M2P0130_assertion description "[We describe a patient with Gorlin syndrome who had three molecular aberrations resulting in biallelic disruption of the PTCH gene, leading to abnormal protein expression and development of basal cell carcinoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP670740.RAYcbXGfLHqUfT3M036YMtycnhz7fbxSu7SzUuOb_M2P0130_provenance.
- NP670740.RAYcbXGfLHqUfT3M036YMtycnhz7fbxSu7SzUuOb_M2P0130_assertion evidence source_evidence_literature NP670740.RAYcbXGfLHqUfT3M036YMtycnhz7fbxSu7SzUuOb_M2P0130_provenance.
- NP670740.RAYcbXGfLHqUfT3M036YMtycnhz7fbxSu7SzUuOb_M2P0130_assertion SIO_000772 18476955 NP670740.RAYcbXGfLHqUfT3M036YMtycnhz7fbxSu7SzUuOb_M2P0130_provenance.
- NP670740.RAYcbXGfLHqUfT3M036YMtycnhz7fbxSu7SzUuOb_M2P0130_assertion wasDerivedFrom befree-2016 NP670740.RAYcbXGfLHqUfT3M036YMtycnhz7fbxSu7SzUuOb_M2P0130_provenance.
- NP670740.RAYcbXGfLHqUfT3M036YMtycnhz7fbxSu7SzUuOb_M2P0130_assertion wasGeneratedBy ECO_0000203 NP670740.RAYcbXGfLHqUfT3M036YMtycnhz7fbxSu7SzUuOb_M2P0130_provenance.