Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_assertion> ?p ?o ?g. }
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- NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_assertion type Assertion NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_head.
- NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_assertion description "[ NKX2.5 mutation c.512insGC is associated with ASDs, syncope and sudden death. It is the second de novo mutation identified in NKX2.5. (2) NKX2.5 mutations are rare in sporadic CHD patients. (3) This study for the first time identifies association between]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_provenance.
- NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_assertion evidence source_evidence_literature NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_provenance.
- NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_assertion SIO_000772 20932824 NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_provenance.
- NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_assertion wasDerivedFrom gad-20150221 NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_provenance.
- NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_assertion wasGeneratedBy ECO_0000203 NP142992.RA1IEejZHmRQsnzTY2PjDoF0BKOFNtF_K5ZT5ReL2pZl0130_provenance.