Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_assertion> ?p ?o ?g. }
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- NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_assertion type Assertion NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_head.
- NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_assertion description "[Mutations in the gene coding for the transmembrane receptor protein Patched (PTCH) are implicated in the autosomal dominant disorder Gorlin syndrome (also known as naevoid basal cell carcinoma syndrome), characterized by congenital abnormalities and cancer predisposition.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_provenance.
- NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_assertion evidence source_evidence_literature NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_provenance.
- NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_assertion SIO_000772 18476955 NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_provenance.
- NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_assertion wasDerivedFrom befree-2016 NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_provenance.
- NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_assertion wasGeneratedBy ECO_0000203 NP670739.RAsWr8L1k_r_GuHPhgObYaYJ93Hof3Do8HKu1anTTM58s130_provenance.