Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP487420.RA9SesGHNoGfET67R1BVM52xeD3ZITmT_PD5mTB19oXMs130_assertion> ?p ?o ?g. }
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- NP487420.RA9SesGHNoGfET67R1BVM52xeD3ZITmT_PD5mTB19oXMs130_assertion type Assertion NP487420.RA9SesGHNoGfET67R1BVM52xeD3ZITmT_PD5mTB19oXMs130_head.
- NP487420.RA9SesGHNoGfET67R1BVM52xeD3ZITmT_PD5mTB19oXMs130_assertion description "[We identified 2 splice site mutations in the CDH3 gene leading to HJMD, further enriching our understanding of HJMD versus ectodermal dysplasia, ectrodactyly and macular dystrophy syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP487420.RA9SesGHNoGfET67R1BVM52xeD3ZITmT_PD5mTB19oXMs130_provenance.
- NP487420.RA9SesGHNoGfET67R1BVM52xeD3ZITmT_PD5mTB19oXMs130_assertion evidence source_evidence_literature NP487420.RA9SesGHNoGfET67R1BVM52xeD3ZITmT_PD5mTB19oXMs130_provenance.
- NP487420.RA9SesGHNoGfET67R1BVM52xeD3ZITmT_PD5mTB19oXMs130_assertion SIO_000772 20203473 NP487420.RA9SesGHNoGfET67R1BVM52xeD3ZITmT_PD5mTB19oXMs130_provenance.
- NP487420.RA9SesGHNoGfET67R1BVM52xeD3ZITmT_PD5mTB19oXMs130_assertion wasDerivedFrom befree-20140225 NP487420.RA9SesGHNoGfET67R1BVM52xeD3ZITmT_PD5mTB19oXMs130_provenance.
- NP487420.RA9SesGHNoGfET67R1BVM52xeD3ZITmT_PD5mTB19oXMs130_assertion wasGeneratedBy ECO_0000203 NP487420.RA9SesGHNoGfET67R1BVM52xeD3ZITmT_PD5mTB19oXMs130_provenance.