Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP728604.RAfGbpviACp-AfRFaI_x4l34eHlyVSfNlY4s1allwK7cI130_assertion> ?p ?o ?g. }
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- NP728604.RAfGbpviACp-AfRFaI_x4l34eHlyVSfNlY4s1allwK7cI130_assertion type Assertion NP728604.RAfGbpviACp-AfRFaI_x4l34eHlyVSfNlY4s1allwK7cI130_head.
- NP728604.RAfGbpviACp-AfRFaI_x4l34eHlyVSfNlY4s1allwK7cI130_assertion description "[Germline RSPO4 and RSPO1 mutations result in recessive anonychia (absence of all fingernails and toenails) and a recessive syndrome with XX-male sex reversal, PPK and a predisposition to SCC, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP728604.RAfGbpviACp-AfRFaI_x4l34eHlyVSfNlY4s1allwK7cI130_provenance.
- NP728604.RAfGbpviACp-AfRFaI_x4l34eHlyVSfNlY4s1allwK7cI130_assertion evidence source_evidence_literature NP728604.RAfGbpviACp-AfRFaI_x4l34eHlyVSfNlY4s1allwK7cI130_provenance.
- NP728604.RAfGbpviACp-AfRFaI_x4l34eHlyVSfNlY4s1allwK7cI130_assertion SIO_000772 17426450 NP728604.RAfGbpviACp-AfRFaI_x4l34eHlyVSfNlY4s1allwK7cI130_provenance.
- NP728604.RAfGbpviACp-AfRFaI_x4l34eHlyVSfNlY4s1allwK7cI130_assertion wasDerivedFrom befree-20140225 NP728604.RAfGbpviACp-AfRFaI_x4l34eHlyVSfNlY4s1allwK7cI130_provenance.
- NP728604.RAfGbpviACp-AfRFaI_x4l34eHlyVSfNlY4s1allwK7cI130_assertion wasGeneratedBy ECO_0000203 NP728604.RAfGbpviACp-AfRFaI_x4l34eHlyVSfNlY4s1allwK7cI130_provenance.