Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP333978.RAbooGgZrq5d2CZKM3mYp0qlZx1LKxuYsK3qExvfNY16E130_assertion> ?p ?o ?g. }
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- NP333978.RAbooGgZrq5d2CZKM3mYp0qlZx1LKxuYsK3qExvfNY16E130_assertion type Assertion NP333978.RAbooGgZrq5d2CZKM3mYp0qlZx1LKxuYsK3qExvfNY16E130_head.
- NP333978.RAbooGgZrq5d2CZKM3mYp0qlZx1LKxuYsK3qExvfNY16E130_assertion description "[We have identified by sequence analysis a novel missense heterozygous mutation in the NKX2-5 gene, specifically a substitution of glutamine for proline at codon 160, in a Moroccan family, the affected members having a deficiency of the floor of the oval fossa and atrioventricular block.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP333978.RAbooGgZrq5d2CZKM3mYp0qlZx1LKxuYsK3qExvfNY16E130_provenance.
- NP333978.RAbooGgZrq5d2CZKM3mYp0qlZx1LKxuYsK3qExvfNY16E130_assertion evidence source_evidence_literature NP333978.RAbooGgZrq5d2CZKM3mYp0qlZx1LKxuYsK3qExvfNY16E130_provenance.
- NP333978.RAbooGgZrq5d2CZKM3mYp0qlZx1LKxuYsK3qExvfNY16E130_assertion SIO_000772 17184575 NP333978.RAbooGgZrq5d2CZKM3mYp0qlZx1LKxuYsK3qExvfNY16E130_provenance.
- NP333978.RAbooGgZrq5d2CZKM3mYp0qlZx1LKxuYsK3qExvfNY16E130_assertion wasDerivedFrom befree-20150227 NP333978.RAbooGgZrq5d2CZKM3mYp0qlZx1LKxuYsK3qExvfNY16E130_provenance.
- NP333978.RAbooGgZrq5d2CZKM3mYp0qlZx1LKxuYsK3qExvfNY16E130_assertion wasGeneratedBy ECO_0000203 NP333978.RAbooGgZrq5d2CZKM3mYp0qlZx1LKxuYsK3qExvfNY16E130_provenance.