Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1056344.RAATTP7UNbbJRpd6lbQpSPZSaNC6OykmfZGfUrckTuMKI130_assertion> ?p ?o ?g. }
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- NP1056344.RAATTP7UNbbJRpd6lbQpSPZSaNC6OykmfZGfUrckTuMKI130_assertion type Assertion NP1056344.RAATTP7UNbbJRpd6lbQpSPZSaNC6OykmfZGfUrckTuMKI130_head.
- NP1056344.RAATTP7UNbbJRpd6lbQpSPZSaNC6OykmfZGfUrckTuMKI130_assertion description "[Agnathia-otocephaly is a rare craniofacial malformation complex that is caused by de novo heterozygous and biallelic mutations in PRRX1 in two unrelated babies, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1056344.RAATTP7UNbbJRpd6lbQpSPZSaNC6OykmfZGfUrckTuMKI130_provenance.
- NP1056344.RAATTP7UNbbJRpd6lbQpSPZSaNC6OykmfZGfUrckTuMKI130_assertion evidence source_evidence_literature NP1056344.RAATTP7UNbbJRpd6lbQpSPZSaNC6OykmfZGfUrckTuMKI130_provenance.
- NP1056344.RAATTP7UNbbJRpd6lbQpSPZSaNC6OykmfZGfUrckTuMKI130_assertion SIO_000772 23444262 NP1056344.RAATTP7UNbbJRpd6lbQpSPZSaNC6OykmfZGfUrckTuMKI130_provenance.
- NP1056344.RAATTP7UNbbJRpd6lbQpSPZSaNC6OykmfZGfUrckTuMKI130_assertion wasDerivedFrom befree-2016 NP1056344.RAATTP7UNbbJRpd6lbQpSPZSaNC6OykmfZGfUrckTuMKI130_provenance.
- NP1056344.RAATTP7UNbbJRpd6lbQpSPZSaNC6OykmfZGfUrckTuMKI130_assertion wasGeneratedBy ECO_0000203 NP1056344.RAATTP7UNbbJRpd6lbQpSPZSaNC6OykmfZGfUrckTuMKI130_provenance.