Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_assertion type Assertion NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_head.
- NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_assertion wasGeneratedBy ECO_0000203 NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_provenance.
- NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_assertion wasDerivedFrom befree-20150227 NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_provenance.
- NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_assertion SIO_000772 11369620 NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_provenance.
- NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_assertion evidence source_evidence_literature NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_provenance.
- NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_assertion description "[Three homozygous mutations were identified in this gene in 4 subjects with P5'N-1 deficiency: codon 98 GAT-->GTT, Asp-->Val (linked to a silent polymorphism codon 92, TAC-->TAT), codon 177, CAA-->TAA, Gln-->termination, and IVS9-1, G-->T. The latter mutation results in the loss of exon 9 (201 bp) from the cDNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP723141.RA2UR4ZR3RyEmBUT6jtuEpegAqCPCXAhyuTOdoMURXKsQ130_provenance.