Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP831134.RAwPZev5oQSeR7pv-u6UYiG58DBhg72iLOw-Yote-GfEo130_assertion> ?p ?o ?g. }
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- NP831134.RAwPZev5oQSeR7pv-u6UYiG58DBhg72iLOw-Yote-GfEo130_assertion type Assertion NP831134.RAwPZev5oQSeR7pv-u6UYiG58DBhg72iLOw-Yote-GfEo130_head.
- NP831134.RAwPZev5oQSeR7pv-u6UYiG58DBhg72iLOw-Yote-GfEo130_assertion description "[The SMADIP1 gene recently has been recognized as disease causing in some patients with 2q22 chromosomal rearrangement, resulting in syndromic HSCR with mental retardation, with microcephaly, and with facial dysmorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP831134.RAwPZev5oQSeR7pv-u6UYiG58DBhg72iLOw-Yote-GfEo130_provenance.
- NP831134.RAwPZev5oQSeR7pv-u6UYiG58DBhg72iLOw-Yote-GfEo130_assertion evidence source_evidence_literature NP831134.RAwPZev5oQSeR7pv-u6UYiG58DBhg72iLOw-Yote-GfEo130_provenance.
- NP831134.RAwPZev5oQSeR7pv-u6UYiG58DBhg72iLOw-Yote-GfEo130_assertion SIO_000772 11595972 NP831134.RAwPZev5oQSeR7pv-u6UYiG58DBhg72iLOw-Yote-GfEo130_provenance.
- NP831134.RAwPZev5oQSeR7pv-u6UYiG58DBhg72iLOw-Yote-GfEo130_assertion wasDerivedFrom befree-20150227 NP831134.RAwPZev5oQSeR7pv-u6UYiG58DBhg72iLOw-Yote-GfEo130_provenance.
- NP831134.RAwPZev5oQSeR7pv-u6UYiG58DBhg72iLOw-Yote-GfEo130_assertion wasGeneratedBy ECO_0000203 NP831134.RAwPZev5oQSeR7pv-u6UYiG58DBhg72iLOw-Yote-GfEo130_provenance.