Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP634628.RAl9aF-nKa54E-1idxss2hj6knNFUm_ZKLa6PtVATNglg130_assertion> ?p ?o ?g. }
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- NP634628.RAl9aF-nKa54E-1idxss2hj6knNFUm_ZKLa6PtVATNglg130_assertion type Assertion NP634628.RAl9aF-nKa54E-1idxss2hj6knNFUm_ZKLa6PtVATNglg130_head.
- NP634628.RAl9aF-nKa54E-1idxss2hj6knNFUm_ZKLa6PtVATNglg130_assertion description "[In one sporadic case, a unique mutation in K16 resulting in deletion of 24bp was found within the central rod domain, in a child with a phenotype predominantly consisting of focal plantar keratoderma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP634628.RAl9aF-nKa54E-1idxss2hj6knNFUm_ZKLa6PtVATNglg130_provenance.
- NP634628.RAl9aF-nKa54E-1idxss2hj6knNFUm_ZKLa6PtVATNglg130_assertion evidence source_evidence_literature NP634628.RAl9aF-nKa54E-1idxss2hj6knNFUm_ZKLa6PtVATNglg130_provenance.
- NP634628.RAl9aF-nKa54E-1idxss2hj6knNFUm_ZKLa6PtVATNglg130_assertion SIO_000772 17719747 NP634628.RAl9aF-nKa54E-1idxss2hj6knNFUm_ZKLa6PtVATNglg130_provenance.
- NP634628.RAl9aF-nKa54E-1idxss2hj6knNFUm_ZKLa6PtVATNglg130_assertion wasDerivedFrom befree-20140225 NP634628.RAl9aF-nKa54E-1idxss2hj6knNFUm_ZKLa6PtVATNglg130_provenance.
- NP634628.RAl9aF-nKa54E-1idxss2hj6knNFUm_ZKLa6PtVATNglg130_assertion wasGeneratedBy ECO_0000203 NP634628.RAl9aF-nKa54E-1idxss2hj6knNFUm_ZKLa6PtVATNglg130_provenance.