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- source_evidence_literature type ECO_0000212 NP332888.RA_9l8Rp0y3N1BdSnPJbHq_hAczZ8Sb3eWMyXim2AzuEU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP332888.RA_9l8Rp0y3N1BdSnPJbHq_hAczZ8Sb3eWMyXim2AzuEU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP332888.RA_9l8Rp0y3N1BdSnPJbHq_hAczZ8Sb3eWMyXim2AzuEU130_provenance.
- NP332888.RA_9l8Rp0y3N1BdSnPJbHq_hAczZ8Sb3eWMyXim2AzuEU130_assertion wasGeneratedBy ECO_0000203 NP332888.RA_9l8Rp0y3N1BdSnPJbHq_hAczZ8Sb3eWMyXim2AzuEU130_provenance.
- NP332888.RA_9l8Rp0y3N1BdSnPJbHq_hAczZ8Sb3eWMyXim2AzuEU130_assertion wasDerivedFrom befree-20140225 NP332888.RA_9l8Rp0y3N1BdSnPJbHq_hAczZ8Sb3eWMyXim2AzuEU130_provenance.
- NP332888.RA_9l8Rp0y3N1BdSnPJbHq_hAczZ8Sb3eWMyXim2AzuEU130_assertion SIO_000772 11369620 NP332888.RA_9l8Rp0y3N1BdSnPJbHq_hAczZ8Sb3eWMyXim2AzuEU130_provenance.
- NP332888.RA_9l8Rp0y3N1BdSnPJbHq_hAczZ8Sb3eWMyXim2AzuEU130_assertion evidence source_evidence_literature NP332888.RA_9l8Rp0y3N1BdSnPJbHq_hAczZ8Sb3eWMyXim2AzuEU130_provenance.
- NP332888.RA_9l8Rp0y3N1BdSnPJbHq_hAczZ8Sb3eWMyXim2AzuEU130_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." NP332888.RA_9l8Rp0y3N1BdSnPJbHq_hAczZ8Sb3eWMyXim2AzuEU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP332888.RA_9l8Rp0y3N1BdSnPJbHq_hAczZ8Sb3eWMyXim2AzuEU130_provenance.