Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP10774.RAb8JWtHRFpFUDYk0cLrcdkG_x8-aWPDOxYK9kNz3h874130_assertion> ?p ?o ?g. }
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- NP10774.RAb8JWtHRFpFUDYk0cLrcdkG_x8-aWPDOxYK9kNz3h874130_assertion type Assertion NP10774.RAb8JWtHRFpFUDYk0cLrcdkG_x8-aWPDOxYK9kNz3h874130_head.
- NP10774.RAb8JWtHRFpFUDYk0cLrcdkG_x8-aWPDOxYK9kNz3h874130_assertion wasGeneratedBy ECO_0000218 NP10774.RAb8JWtHRFpFUDYk0cLrcdkG_x8-aWPDOxYK9kNz3h874130_provenance.
- NP10774.RAb8JWtHRFpFUDYk0cLrcdkG_x8-aWPDOxYK9kNz3h874130_assertion wasDerivedFrom ctd_human-20150221 NP10774.RAb8JWtHRFpFUDYk0cLrcdkG_x8-aWPDOxYK9kNz3h874130_provenance.
- NP10774.RAb8JWtHRFpFUDYk0cLrcdkG_x8-aWPDOxYK9kNz3h874130_assertion SIO_000772 19896112 NP10774.RAb8JWtHRFpFUDYk0cLrcdkG_x8-aWPDOxYK9kNz3h874130_provenance.
- NP10774.RAb8JWtHRFpFUDYk0cLrcdkG_x8-aWPDOxYK9kNz3h874130_assertion evidence source_evidence_curated NP10774.RAb8JWtHRFpFUDYk0cLrcdkG_x8-aWPDOxYK9kNz3h874130_provenance.
- NP10774.RAb8JWtHRFpFUDYk0cLrcdkG_x8-aWPDOxYK9kNz3h874130_assertion description "[We now identified homozygous and compound-heterozygous deletions and mutations via molecular karyotyping and mutational screening in CNTNAP2 and NRXN1 in four patients with severe mental retardation (MR) and variable features, such as autistic behavior, epilepsy, and breathing anomalies, phenotypically overlapping with Pitt-Hopkins syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP10774.RAb8JWtHRFpFUDYk0cLrcdkG_x8-aWPDOxYK9kNz3h874130_provenance.