Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP378730.RAOYe3E93HCg_-H5lEaxAbPNixooKAYLb9cPJpGm-i_A4130_assertion> ?p ?o ?g. }
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- NP378730.RAOYe3E93HCg_-H5lEaxAbPNixooKAYLb9cPJpGm-i_A4130_assertion type Assertion NP378730.RAOYe3E93HCg_-H5lEaxAbPNixooKAYLb9cPJpGm-i_A4130_head.
- NP378730.RAOYe3E93HCg_-H5lEaxAbPNixooKAYLb9cPJpGm-i_A4130_assertion description "[A family with affected members, previously reported to carry an R94H mutation of keratin K17, and characterized by a variable and oligosymptomatic form of pachyonychia congenita of the Jackson-Sertoli type with steatocystoma multiplex, is described in detail.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP378730.RAOYe3E93HCg_-H5lEaxAbPNixooKAYLb9cPJpGm-i_A4130_provenance.
- NP378730.RAOYe3E93HCg_-H5lEaxAbPNixooKAYLb9cPJpGm-i_A4130_assertion evidence source_evidence_literature NP378730.RAOYe3E93HCg_-H5lEaxAbPNixooKAYLb9cPJpGm-i_A4130_provenance.
- NP378730.RAOYe3E93HCg_-H5lEaxAbPNixooKAYLb9cPJpGm-i_A4130_assertion SIO_000772 9267753 NP378730.RAOYe3E93HCg_-H5lEaxAbPNixooKAYLb9cPJpGm-i_A4130_provenance.
- NP378730.RAOYe3E93HCg_-H5lEaxAbPNixooKAYLb9cPJpGm-i_A4130_assertion wasDerivedFrom befree-20140225 NP378730.RAOYe3E93HCg_-H5lEaxAbPNixooKAYLb9cPJpGm-i_A4130_provenance.
- NP378730.RAOYe3E93HCg_-H5lEaxAbPNixooKAYLb9cPJpGm-i_A4130_assertion wasGeneratedBy ECO_0000203 NP378730.RAOYe3E93HCg_-H5lEaxAbPNixooKAYLb9cPJpGm-i_A4130_provenance.