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- NP318661.RACAnZgmgougpakqrrP-oM-nWFuM5yT6HpopiP638J4iA130_assertion type Assertion NP318661.RACAnZgmgougpakqrrP-oM-nWFuM5yT6HpopiP638J4iA130_head.
- NP318661.RACAnZgmgougpakqrrP-oM-nWFuM5yT6HpopiP638J4iA130_assertion wasGeneratedBy ECO_0000203 NP318661.RACAnZgmgougpakqrrP-oM-nWFuM5yT6HpopiP638J4iA130_provenance.
- NP318661.RACAnZgmgougpakqrrP-oM-nWFuM5yT6HpopiP638J4iA130_assertion wasDerivedFrom befree-2016 NP318661.RACAnZgmgougpakqrrP-oM-nWFuM5yT6HpopiP638J4iA130_provenance.
- NP318661.RACAnZgmgougpakqrrP-oM-nWFuM5yT6HpopiP638J4iA130_assertion SIO_000772 11369620 NP318661.RACAnZgmgougpakqrrP-oM-nWFuM5yT6HpopiP638J4iA130_provenance.
- NP318661.RACAnZgmgougpakqrrP-oM-nWFuM5yT6HpopiP638J4iA130_assertion evidence source_evidence_literature NP318661.RACAnZgmgougpakqrrP-oM-nWFuM5yT6HpopiP638J4iA130_provenance.
- NP318661.RACAnZgmgougpakqrrP-oM-nWFuM5yT6HpopiP638J4iA130_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." NP318661.RACAnZgmgougpakqrrP-oM-nWFuM5yT6HpopiP638J4iA130_provenance.