Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_assertion> ?p ?o ?g. }
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- NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_assertion type Assertion NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_head.
- NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_assertion description "[Missense mutations c.341A > T (p.Asp113Val) in exon 4 and c.663T > G (p.Asn220Lys) in exon 7 are associated with hereditary nonspherocytic hemolytic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_provenance.
- NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_assertion evidence source_evidence_literature NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_provenance.
- NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_assertion SIO_000772 17041899 NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_provenance.
- NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_assertion wasDerivedFrom lhgdn-20090331 NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_provenance.
- NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_assertion wasGeneratedBy ECO_0000203 NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_provenance.