Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- 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.