Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP585095.RAljosflBR5yZgX8MIB0BAfUgbnaA4IjTUQ1AxzMgdHI8130_assertion> ?p ?o ?g. }
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- NP585095.RAljosflBR5yZgX8MIB0BAfUgbnaA4IjTUQ1AxzMgdHI8130_assertion type Assertion NP585095.RAljosflBR5yZgX8MIB0BAfUgbnaA4IjTUQ1AxzMgdHI8130_head.
- NP585095.RAljosflBR5yZgX8MIB0BAfUgbnaA4IjTUQ1AxzMgdHI8130_assertion wasGeneratedBy ECO_0000203 NP585095.RAljosflBR5yZgX8MIB0BAfUgbnaA4IjTUQ1AxzMgdHI8130_provenance.
- NP585095.RAljosflBR5yZgX8MIB0BAfUgbnaA4IjTUQ1AxzMgdHI8130_assertion wasDerivedFrom befree-20140225 NP585095.RAljosflBR5yZgX8MIB0BAfUgbnaA4IjTUQ1AxzMgdHI8130_provenance.
- NP585095.RAljosflBR5yZgX8MIB0BAfUgbnaA4IjTUQ1AxzMgdHI8130_assertion SIO_000772 11369620 NP585095.RAljosflBR5yZgX8MIB0BAfUgbnaA4IjTUQ1AxzMgdHI8130_provenance.
- NP585095.RAljosflBR5yZgX8MIB0BAfUgbnaA4IjTUQ1AxzMgdHI8130_assertion evidence source_evidence_literature NP585095.RAljosflBR5yZgX8MIB0BAfUgbnaA4IjTUQ1AxzMgdHI8130_provenance.
- NP585095.RAljosflBR5yZgX8MIB0BAfUgbnaA4IjTUQ1AxzMgdHI8130_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." NP585095.RAljosflBR5yZgX8MIB0BAfUgbnaA4IjTUQ1AxzMgdHI8130_provenance.