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- source_evidence_literature type ECO_0000212 NP821212.RAMNbIfz8H6R1bWGQbKJAB8grq3lm_Ff6H0QgJfnjQysY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP821212.RAMNbIfz8H6R1bWGQbKJAB8grq3lm_Ff6H0QgJfnjQysY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP821212.RAMNbIfz8H6R1bWGQbKJAB8grq3lm_Ff6H0QgJfnjQysY130_provenance.
- NP821212.RAMNbIfz8H6R1bWGQbKJAB8grq3lm_Ff6H0QgJfnjQysY130_assertion description "[The novel mutation p.G315X in the OA1 gene was identified in a Chinese family with ocular albinism, which is predicted to generate a premature stop codon.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP821212.RAMNbIfz8H6R1bWGQbKJAB8grq3lm_Ff6H0QgJfnjQysY130_provenance.
- NP821212.RAMNbIfz8H6R1bWGQbKJAB8grq3lm_Ff6H0QgJfnjQysY130_assertion evidence source_evidence_literature NP821212.RAMNbIfz8H6R1bWGQbKJAB8grq3lm_Ff6H0QgJfnjQysY130_provenance.
- NP821212.RAMNbIfz8H6R1bWGQbKJAB8grq3lm_Ff6H0QgJfnjQysY130_assertion SIO_000772 19123159 NP821212.RAMNbIfz8H6R1bWGQbKJAB8grq3lm_Ff6H0QgJfnjQysY130_provenance.
- NP821212.RAMNbIfz8H6R1bWGQbKJAB8grq3lm_Ff6H0QgJfnjQysY130_assertion wasDerivedFrom befree-20140225 NP821212.RAMNbIfz8H6R1bWGQbKJAB8grq3lm_Ff6H0QgJfnjQysY130_provenance.
- NP821212.RAMNbIfz8H6R1bWGQbKJAB8grq3lm_Ff6H0QgJfnjQysY130_assertion wasGeneratedBy ECO_0000203 NP821212.RAMNbIfz8H6R1bWGQbKJAB8grq3lm_Ff6H0QgJfnjQysY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP821212.RAMNbIfz8H6R1bWGQbKJAB8grq3lm_Ff6H0QgJfnjQysY130_provenance.