Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP312911.RAqOfUp6aogMQMjBMI_dn931hh0oWo9KVqbVTyxAcGkc0130_assertion> ?p ?o ?g. }
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- NP312911.RAqOfUp6aogMQMjBMI_dn931hh0oWo9KVqbVTyxAcGkc0130_assertion type Assertion NP312911.RAqOfUp6aogMQMjBMI_dn931hh0oWo9KVqbVTyxAcGkc0130_head.
- NP312911.RAqOfUp6aogMQMjBMI_dn931hh0oWo9KVqbVTyxAcGkc0130_assertion description "[We conclude that ELAC2/HPC2 truncating mutations are rare in HPC, but that rare variants of the ELAC2/HPC2 require additional study as risk factors for PRCA in the general population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP312911.RAqOfUp6aogMQMjBMI_dn931hh0oWo9KVqbVTyxAcGkc0130_provenance.
- NP312911.RAqOfUp6aogMQMjBMI_dn931hh0oWo9KVqbVTyxAcGkc0130_assertion evidence source_evidence_literature NP312911.RAqOfUp6aogMQMjBMI_dn931hh0oWo9KVqbVTyxAcGkc0130_provenance.
- NP312911.RAqOfUp6aogMQMjBMI_dn931hh0oWo9KVqbVTyxAcGkc0130_assertion SIO_000772 11507049 NP312911.RAqOfUp6aogMQMjBMI_dn931hh0oWo9KVqbVTyxAcGkc0130_provenance.
- NP312911.RAqOfUp6aogMQMjBMI_dn931hh0oWo9KVqbVTyxAcGkc0130_assertion wasDerivedFrom befree-20140225 NP312911.RAqOfUp6aogMQMjBMI_dn931hh0oWo9KVqbVTyxAcGkc0130_provenance.
- NP312911.RAqOfUp6aogMQMjBMI_dn931hh0oWo9KVqbVTyxAcGkc0130_assertion wasGeneratedBy ECO_0000203 NP312911.RAqOfUp6aogMQMjBMI_dn931hh0oWo9KVqbVTyxAcGkc0130_provenance.