Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP541087.RAxLQERJTJb-sBR1xD_vm-ckPth81lFO9Eg7pvvqsKy6E130_assertion> ?p ?o ?g. }
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- NP541087.RAxLQERJTJb-sBR1xD_vm-ckPth81lFO9Eg7pvvqsKy6E130_assertion type Assertion NP541087.RAxLQERJTJb-sBR1xD_vm-ckPth81lFO9Eg7pvvqsKy6E130_head.
- NP541087.RAxLQERJTJb-sBR1xD_vm-ckPth81lFO9Eg7pvvqsKy6E130_assertion wasGeneratedBy ECO_0000203 NP541087.RAxLQERJTJb-sBR1xD_vm-ckPth81lFO9Eg7pvvqsKy6E130_provenance.
- NP541087.RAxLQERJTJb-sBR1xD_vm-ckPth81lFO9Eg7pvvqsKy6E130_assertion wasDerivedFrom befree-20140225 NP541087.RAxLQERJTJb-sBR1xD_vm-ckPth81lFO9Eg7pvvqsKy6E130_provenance.
- NP541087.RAxLQERJTJb-sBR1xD_vm-ckPth81lFO9Eg7pvvqsKy6E130_assertion SIO_000772 11285244 NP541087.RAxLQERJTJb-sBR1xD_vm-ckPth81lFO9Eg7pvvqsKy6E130_provenance.
- NP541087.RAxLQERJTJb-sBR1xD_vm-ckPth81lFO9Eg7pvvqsKy6E130_assertion evidence source_evidence_literature NP541087.RAxLQERJTJb-sBR1xD_vm-ckPth81lFO9Eg7pvvqsKy6E130_provenance.
- NP541087.RAxLQERJTJb-sBR1xD_vm-ckPth81lFO9Eg7pvvqsKy6E130_assertion description "[Although severe facial anomalies are common in HPE, all of the patients with ZIC2 mutations had relatively normal faces, suggesting that ZIC2 mutations represent a large proportion of HPE cases without facial malformation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP541087.RAxLQERJTJb-sBR1xD_vm-ckPth81lFO9Eg7pvvqsKy6E130_provenance.