Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP735505.RAK-tEliitZnPfSIjbwVmPADtcWNqZpg26waRlierMJjY130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP735505.RAK-tEliitZnPfSIjbwVmPADtcWNqZpg26waRlierMJjY130_assertion type Assertion NP735505.RAK-tEliitZnPfSIjbwVmPADtcWNqZpg26waRlierMJjY130_head.
- NP735505.RAK-tEliitZnPfSIjbwVmPADtcWNqZpg26waRlierMJjY130_assertion description "[PTC mutations in both alleles generally cause the most severe, mutilating Hallopeau-Siemens (HS) variant of RDEB, whereas none of the PTC mutations resulted in severe phenotypes consistent with the HS subtype when coupled with p.Glu2857X.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP735505.RAK-tEliitZnPfSIjbwVmPADtcWNqZpg26waRlierMJjY130_provenance.
- NP735505.RAK-tEliitZnPfSIjbwVmPADtcWNqZpg26waRlierMJjY130_assertion evidence source_evidence_literature NP735505.RAK-tEliitZnPfSIjbwVmPADtcWNqZpg26waRlierMJjY130_provenance.
- NP735505.RAK-tEliitZnPfSIjbwVmPADtcWNqZpg26waRlierMJjY130_assertion SIO_000772 18440202 NP735505.RAK-tEliitZnPfSIjbwVmPADtcWNqZpg26waRlierMJjY130_provenance.
- NP735505.RAK-tEliitZnPfSIjbwVmPADtcWNqZpg26waRlierMJjY130_assertion wasDerivedFrom befree-20140225 NP735505.RAK-tEliitZnPfSIjbwVmPADtcWNqZpg26waRlierMJjY130_provenance.
- NP735505.RAK-tEliitZnPfSIjbwVmPADtcWNqZpg26waRlierMJjY130_assertion wasGeneratedBy ECO_0000203 NP735505.RAK-tEliitZnPfSIjbwVmPADtcWNqZpg26waRlierMJjY130_provenance.