Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP332860.RAjJnnElzyZz4Ie_MAt0tO1Blla44NIveaY-NbN5rm4fc130_assertion> ?p ?o ?g. }
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- NP332860.RAjJnnElzyZz4Ie_MAt0tO1Blla44NIveaY-NbN5rm4fc130_assertion type Assertion NP332860.RAjJnnElzyZz4Ie_MAt0tO1Blla44NIveaY-NbN5rm4fc130_head.
- NP332860.RAjJnnElzyZz4Ie_MAt0tO1Blla44NIveaY-NbN5rm4fc130_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." NP332860.RAjJnnElzyZz4Ie_MAt0tO1Blla44NIveaY-NbN5rm4fc130_provenance.
- NP332860.RAjJnnElzyZz4Ie_MAt0tO1Blla44NIveaY-NbN5rm4fc130_assertion evidence source_evidence_literature NP332860.RAjJnnElzyZz4Ie_MAt0tO1Blla44NIveaY-NbN5rm4fc130_provenance.
- NP332860.RAjJnnElzyZz4Ie_MAt0tO1Blla44NIveaY-NbN5rm4fc130_assertion SIO_000772 11595972 NP332860.RAjJnnElzyZz4Ie_MAt0tO1Blla44NIveaY-NbN5rm4fc130_provenance.
- NP332860.RAjJnnElzyZz4Ie_MAt0tO1Blla44NIveaY-NbN5rm4fc130_assertion wasDerivedFrom befree-2016 NP332860.RAjJnnElzyZz4Ie_MAt0tO1Blla44NIveaY-NbN5rm4fc130_provenance.
- NP332860.RAjJnnElzyZz4Ie_MAt0tO1Blla44NIveaY-NbN5rm4fc130_assertion wasGeneratedBy ECO_0000203 NP332860.RAjJnnElzyZz4Ie_MAt0tO1Blla44NIveaY-NbN5rm4fc130_provenance.