Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP501764.RAa7fWwt-LyVNXZQ2xNsYm6DsmhuxEuwDjwFtAXiPAR_o130_assertion> ?p ?o ?g. }
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- NP501764.RAa7fWwt-LyVNXZQ2xNsYm6DsmhuxEuwDjwFtAXiPAR_o130_assertion type Assertion NP501764.RAa7fWwt-LyVNXZQ2xNsYm6DsmhuxEuwDjwFtAXiPAR_o130_head.
- NP501764.RAa7fWwt-LyVNXZQ2xNsYm6DsmhuxEuwDjwFtAXiPAR_o130_assertion description "[Autosomal recessive Meckel syndrome (OMIM 249000) (MES), first described in 1822 by Johann F. Meckel, is a major monogenic malformation syndrome with a neural tube defect leading to death of the fetus in utero or shortly after birth.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP501764.RAa7fWwt-LyVNXZQ2xNsYm6DsmhuxEuwDjwFtAXiPAR_o130_provenance.
- NP501764.RAa7fWwt-LyVNXZQ2xNsYm6DsmhuxEuwDjwFtAXiPAR_o130_assertion evidence source_evidence_literature NP501764.RAa7fWwt-LyVNXZQ2xNsYm6DsmhuxEuwDjwFtAXiPAR_o130_provenance.
- NP501764.RAa7fWwt-LyVNXZQ2xNsYm6DsmhuxEuwDjwFtAXiPAR_o130_assertion SIO_000772 7550354 NP501764.RAa7fWwt-LyVNXZQ2xNsYm6DsmhuxEuwDjwFtAXiPAR_o130_provenance.
- NP501764.RAa7fWwt-LyVNXZQ2xNsYm6DsmhuxEuwDjwFtAXiPAR_o130_assertion wasDerivedFrom befree-20140225 NP501764.RAa7fWwt-LyVNXZQ2xNsYm6DsmhuxEuwDjwFtAXiPAR_o130_provenance.
- NP501764.RAa7fWwt-LyVNXZQ2xNsYm6DsmhuxEuwDjwFtAXiPAR_o130_assertion wasGeneratedBy ECO_0000203 NP501764.RAa7fWwt-LyVNXZQ2xNsYm6DsmhuxEuwDjwFtAXiPAR_o130_provenance.