Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP877547.RAzPhltFNGKcRM5a38NcGHVwVoaSxL7LAN5G9daoKVAt8130_assertion> ?p ?o ?g. }
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- NP877547.RAzPhltFNGKcRM5a38NcGHVwVoaSxL7LAN5G9daoKVAt8130_assertion type Assertion NP877547.RAzPhltFNGKcRM5a38NcGHVwVoaSxL7LAN5G9daoKVAt8130_head.
- NP877547.RAzPhltFNGKcRM5a38NcGHVwVoaSxL7LAN5G9daoKVAt8130_assertion description "[A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP877547.RAzPhltFNGKcRM5a38NcGHVwVoaSxL7LAN5G9daoKVAt8130_provenance.
- NP877547.RAzPhltFNGKcRM5a38NcGHVwVoaSxL7LAN5G9daoKVAt8130_assertion evidence source_evidence_literature NP877547.RAzPhltFNGKcRM5a38NcGHVwVoaSxL7LAN5G9daoKVAt8130_provenance.
- NP877547.RAzPhltFNGKcRM5a38NcGHVwVoaSxL7LAN5G9daoKVAt8130_assertion SIO_000772 20949531 NP877547.RAzPhltFNGKcRM5a38NcGHVwVoaSxL7LAN5G9daoKVAt8130_provenance.
- NP877547.RAzPhltFNGKcRM5a38NcGHVwVoaSxL7LAN5G9daoKVAt8130_assertion wasDerivedFrom befree-20140225 NP877547.RAzPhltFNGKcRM5a38NcGHVwVoaSxL7LAN5G9daoKVAt8130_provenance.
- NP877547.RAzPhltFNGKcRM5a38NcGHVwVoaSxL7LAN5G9daoKVAt8130_assertion wasGeneratedBy ECO_0000203 NP877547.RAzPhltFNGKcRM5a38NcGHVwVoaSxL7LAN5G9daoKVAt8130_provenance.