Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_assertion type Assertion NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_head.
- NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_assertion description "[A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_provenance.
- NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_assertion evidence source_evidence_curated NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_provenance.
- NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_assertion SIO_000772 17993581 NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_provenance.
- NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_assertion wasDerivedFrom uniprot-2016 NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_provenance.
- NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_assertion wasGeneratedBy ECO_0000218 NP5177.RAMJXMW4CpdEl9621UDMyHPDezMl8DFokbhA_MqrG3R9s130_provenance.