Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP903705.RAhFfhW6C8skDpAUelzt9P7yTWM6N-sEQ2KLbDwhKajxw130_assertion> ?p ?o ?g. }
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- NP903705.RAhFfhW6C8skDpAUelzt9P7yTWM6N-sEQ2KLbDwhKajxw130_assertion type Assertion NP903705.RAhFfhW6C8skDpAUelzt9P7yTWM6N-sEQ2KLbDwhKajxw130_head.
- NP903705.RAhFfhW6C8skDpAUelzt9P7yTWM6N-sEQ2KLbDwhKajxw130_assertion description "[A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP903705.RAhFfhW6C8skDpAUelzt9P7yTWM6N-sEQ2KLbDwhKajxw130_provenance.
- NP903705.RAhFfhW6C8skDpAUelzt9P7yTWM6N-sEQ2KLbDwhKajxw130_assertion evidence source_evidence_literature NP903705.RAhFfhW6C8skDpAUelzt9P7yTWM6N-sEQ2KLbDwhKajxw130_provenance.
- NP903705.RAhFfhW6C8skDpAUelzt9P7yTWM6N-sEQ2KLbDwhKajxw130_assertion SIO_000772 12615648 NP903705.RAhFfhW6C8skDpAUelzt9P7yTWM6N-sEQ2KLbDwhKajxw130_provenance.
- NP903705.RAhFfhW6C8skDpAUelzt9P7yTWM6N-sEQ2KLbDwhKajxw130_assertion wasDerivedFrom befree-20140225 NP903705.RAhFfhW6C8skDpAUelzt9P7yTWM6N-sEQ2KLbDwhKajxw130_provenance.
- NP903705.RAhFfhW6C8skDpAUelzt9P7yTWM6N-sEQ2KLbDwhKajxw130_assertion wasGeneratedBy ECO_0000203 NP903705.RAhFfhW6C8skDpAUelzt9P7yTWM6N-sEQ2KLbDwhKajxw130_provenance.