Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP228546.RAIybgTE9at-N0tRq-piZEZQ5r0Jr2XIaXehmH_swsVI0130_assertion> ?p ?o ?g. }
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- NP228546.RAIybgTE9at-N0tRq-piZEZQ5r0Jr2XIaXehmH_swsVI0130_assertion type Assertion NP228546.RAIybgTE9at-N0tRq-piZEZQ5r0Jr2XIaXehmH_swsVI0130_head.
- NP228546.RAIybgTE9at-N0tRq-piZEZQ5r0Jr2XIaXehmH_swsVI0130_assertion description "[Four new missense and five known mutations in K6a, one new deletion and three previously identified missense mutations in K16, plus one known mutation in K17 are reported in pachyonychia congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP228546.RAIybgTE9at-N0tRq-piZEZQ5r0Jr2XIaXehmH_swsVI0130_provenance.
- NP228546.RAIybgTE9at-N0tRq-piZEZQ5r0Jr2XIaXehmH_swsVI0130_assertion evidence source_evidence_literature NP228546.RAIybgTE9at-N0tRq-piZEZQ5r0Jr2XIaXehmH_swsVI0130_provenance.
- NP228546.RAIybgTE9at-N0tRq-piZEZQ5r0Jr2XIaXehmH_swsVI0130_assertion SIO_000772 17719747 NP228546.RAIybgTE9at-N0tRq-piZEZQ5r0Jr2XIaXehmH_swsVI0130_provenance.
- NP228546.RAIybgTE9at-N0tRq-piZEZQ5r0Jr2XIaXehmH_swsVI0130_assertion wasDerivedFrom lhgdn-20090331 NP228546.RAIybgTE9at-N0tRq-piZEZQ5r0Jr2XIaXehmH_swsVI0130_provenance.
- NP228546.RAIybgTE9at-N0tRq-piZEZQ5r0Jr2XIaXehmH_swsVI0130_assertion wasGeneratedBy ECO_0000203 NP228546.RAIybgTE9at-N0tRq-piZEZQ5r0Jr2XIaXehmH_swsVI0130_provenance.