Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP45110.RARadVbCvA2zZzsXkK0McHrg-mOEr5cHkYd0_7RSVqPEw130_assertion> ?p ?o ?g. }
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- NP45110.RARadVbCvA2zZzsXkK0McHrg-mOEr5cHkYd0_7RSVqPEw130_assertion type Assertion NP45110.RARadVbCvA2zZzsXkK0McHrg-mOEr5cHkYd0_7RSVqPEw130_head.
- NP45110.RARadVbCvA2zZzsXkK0McHrg-mOEr5cHkYd0_7RSVqPEw130_assertion description "[Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP45110.RARadVbCvA2zZzsXkK0McHrg-mOEr5cHkYd0_7RSVqPEw130_provenance.
- NP45110.RARadVbCvA2zZzsXkK0McHrg-mOEr5cHkYd0_7RSVqPEw130_assertion evidence source_evidence_literature NP45110.RARadVbCvA2zZzsXkK0McHrg-mOEr5cHkYd0_7RSVqPEw130_provenance.
- NP45110.RARadVbCvA2zZzsXkK0McHrg-mOEr5cHkYd0_7RSVqPEw130_assertion SIO_000772 16752392 NP45110.RARadVbCvA2zZzsXkK0McHrg-mOEr5cHkYd0_7RSVqPEw130_provenance.
- NP45110.RARadVbCvA2zZzsXkK0McHrg-mOEr5cHkYd0_7RSVqPEw130_assertion wasDerivedFrom gad-20130706 NP45110.RARadVbCvA2zZzsXkK0McHrg-mOEr5cHkYd0_7RSVqPEw130_provenance.
- NP45110.RARadVbCvA2zZzsXkK0McHrg-mOEr5cHkYd0_7RSVqPEw130_assertion wasGeneratedBy ECO_0000203 NP45110.RARadVbCvA2zZzsXkK0McHrg-mOEr5cHkYd0_7RSVqPEw130_provenance.