Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP874192.RAkOMVAvMoNwwxFP-ft7Qifh5cQgWMRwdmv0QEh4DbGI4130_assertion> ?p ?o ?g. }
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- NP874192.RAkOMVAvMoNwwxFP-ft7Qifh5cQgWMRwdmv0QEh4DbGI4130_assertion type Assertion NP874192.RAkOMVAvMoNwwxFP-ft7Qifh5cQgWMRwdmv0QEh4DbGI4130_head.
- NP874192.RAkOMVAvMoNwwxFP-ft7Qifh5cQgWMRwdmv0QEh4DbGI4130_assertion description "[A patient with anophthalmia, microphthalmia with sclerocornea, right-sided diaphragmatic hernia, and hydrocephalus was found to have a c.592C >T (p.R198X) nonsense mutation in BMP4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP874192.RAkOMVAvMoNwwxFP-ft7Qifh5cQgWMRwdmv0QEh4DbGI4130_provenance.
- NP874192.RAkOMVAvMoNwwxFP-ft7Qifh5cQgWMRwdmv0QEh4DbGI4130_assertion evidence source_evidence_literature NP874192.RAkOMVAvMoNwwxFP-ft7Qifh5cQgWMRwdmv0QEh4DbGI4130_provenance.
- NP874192.RAkOMVAvMoNwwxFP-ft7Qifh5cQgWMRwdmv0QEh4DbGI4130_assertion SIO_000772 21340693 NP874192.RAkOMVAvMoNwwxFP-ft7Qifh5cQgWMRwdmv0QEh4DbGI4130_provenance.
- NP874192.RAkOMVAvMoNwwxFP-ft7Qifh5cQgWMRwdmv0QEh4DbGI4130_assertion wasDerivedFrom befree-2016 NP874192.RAkOMVAvMoNwwxFP-ft7Qifh5cQgWMRwdmv0QEh4DbGI4130_provenance.
- NP874192.RAkOMVAvMoNwwxFP-ft7Qifh5cQgWMRwdmv0QEh4DbGI4130_assertion wasGeneratedBy ECO_0000203 NP874192.RAkOMVAvMoNwwxFP-ft7Qifh5cQgWMRwdmv0QEh4DbGI4130_provenance.