Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_assertion> ?p ?o ?g. }
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- NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_assertion type Assertion NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_head.
- NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_assertion description "[A patient with nevoid basal-cell carcinoma syndrome and West syndrome/patient had a heterozygous mutation (insertion of TGGC) in the PTCH gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_provenance.
- NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_assertion evidence source_evidence_literature NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_provenance.
- NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_assertion SIO_000772 17950424 NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_provenance.
- NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_assertion wasDerivedFrom lhgdn-20090331 NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_provenance.
- NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_assertion wasGeneratedBy ECO_0000203 NP230445.RAuuuOUzMhRFXaw-LBu3HlrFpmiGYBdFLDyVOQVlSNBpw130_provenance.