Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1240483.RAT79IVVL6ROFOo6y-OD0J3BcI6Tt0KteJbU-U1DDKlh0130_assertion> ?p ?o ?g. }
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- NP1240483.RAT79IVVL6ROFOo6y-OD0J3BcI6Tt0KteJbU-U1DDKlh0130_assertion type Assertion NP1240483.RAT79IVVL6ROFOo6y-OD0J3BcI6Tt0KteJbU-U1DDKlh0130_head.
- NP1240483.RAT79IVVL6ROFOo6y-OD0J3BcI6Tt0KteJbU-U1DDKlh0130_assertion description "[Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity?ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1240483.RAT79IVVL6ROFOo6y-OD0J3BcI6Tt0KteJbU-U1DDKlh0130_provenance.
- NP1240483.RAT79IVVL6ROFOo6y-OD0J3BcI6Tt0KteJbU-U1DDKlh0130_assertion evidence source_evidence_literature NP1240483.RAT79IVVL6ROFOo6y-OD0J3BcI6Tt0KteJbU-U1DDKlh0130_provenance.
- NP1240483.RAT79IVVL6ROFOo6y-OD0J3BcI6Tt0KteJbU-U1DDKlh0130_assertion SIO_000772 25427950 NP1240483.RAT79IVVL6ROFOo6y-OD0J3BcI6Tt0KteJbU-U1DDKlh0130_provenance.
- NP1240483.RAT79IVVL6ROFOo6y-OD0J3BcI6Tt0KteJbU-U1DDKlh0130_assertion wasDerivedFrom befree-2016 NP1240483.RAT79IVVL6ROFOo6y-OD0J3BcI6Tt0KteJbU-U1DDKlh0130_provenance.
- NP1240483.RAT79IVVL6ROFOo6y-OD0J3BcI6Tt0KteJbU-U1DDKlh0130_assertion wasGeneratedBy ECO_0000203 NP1240483.RAT79IVVL6ROFOo6y-OD0J3BcI6Tt0KteJbU-U1DDKlh0130_provenance.