Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP146569.RA8qRE_YkD4cKyABAtIyiFLvKkKq7eAbaBAuTJJIsPP5U130_assertion> ?p ?o ?g. }
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- NP146569.RA8qRE_YkD4cKyABAtIyiFLvKkKq7eAbaBAuTJJIsPP5U130_assertion type Assertion NP146569.RA8qRE_YkD4cKyABAtIyiFLvKkKq7eAbaBAuTJJIsPP5U130_head.
- NP146569.RA8qRE_YkD4cKyABAtIyiFLvKkKq7eAbaBAuTJJIsPP5U130_assertion description "[large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP146569.RA8qRE_YkD4cKyABAtIyiFLvKkKq7eAbaBAuTJJIsPP5U130_provenance.
- NP146569.RA8qRE_YkD4cKyABAtIyiFLvKkKq7eAbaBAuTJJIsPP5U130_assertion evidence source_evidence_literature NP146569.RA8qRE_YkD4cKyABAtIyiFLvKkKq7eAbaBAuTJJIsPP5U130_provenance.
- NP146569.RA8qRE_YkD4cKyABAtIyiFLvKkKq7eAbaBAuTJJIsPP5U130_assertion SIO_000772 11595972 NP146569.RA8qRE_YkD4cKyABAtIyiFLvKkKq7eAbaBAuTJJIsPP5U130_provenance.
- NP146569.RA8qRE_YkD4cKyABAtIyiFLvKkKq7eAbaBAuTJJIsPP5U130_assertion wasDerivedFrom lhgdn-20090331 NP146569.RA8qRE_YkD4cKyABAtIyiFLvKkKq7eAbaBAuTJJIsPP5U130_provenance.
- NP146569.RA8qRE_YkD4cKyABAtIyiFLvKkKq7eAbaBAuTJJIsPP5U130_assertion wasGeneratedBy ECO_0000203 NP146569.RA8qRE_YkD4cKyABAtIyiFLvKkKq7eAbaBAuTJJIsPP5U130_provenance.