Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP228545.RA2coie0_k7P6BGZT1bstEYnhvRnGclm44V2szMYquW8w130_assertion> ?p ?o ?g. }
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- NP228545.RA2coie0_k7P6BGZT1bstEYnhvRnGclm44V2szMYquW8w130_assertion type Assertion NP228545.RA2coie0_k7P6BGZT1bstEYnhvRnGclm44V2szMYquW8w130_head.
- NP228545.RA2coie0_k7P6BGZT1bstEYnhvRnGclm44V2szMYquW8w130_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." NP228545.RA2coie0_k7P6BGZT1bstEYnhvRnGclm44V2szMYquW8w130_provenance.
- NP228545.RA2coie0_k7P6BGZT1bstEYnhvRnGclm44V2szMYquW8w130_assertion evidence source_evidence_literature NP228545.RA2coie0_k7P6BGZT1bstEYnhvRnGclm44V2szMYquW8w130_provenance.
- NP228545.RA2coie0_k7P6BGZT1bstEYnhvRnGclm44V2szMYquW8w130_assertion SIO_000772 17719747 NP228545.RA2coie0_k7P6BGZT1bstEYnhvRnGclm44V2szMYquW8w130_provenance.
- NP228545.RA2coie0_k7P6BGZT1bstEYnhvRnGclm44V2szMYquW8w130_assertion wasDerivedFrom lhgdn-20090331 NP228545.RA2coie0_k7P6BGZT1bstEYnhvRnGclm44V2szMYquW8w130_provenance.
- NP228545.RA2coie0_k7P6BGZT1bstEYnhvRnGclm44V2szMYquW8w130_assertion wasGeneratedBy ECO_0000203 NP228545.RA2coie0_k7P6BGZT1bstEYnhvRnGclm44V2szMYquW8w130_provenance.