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- source_evidence_literature type ECO_0000212 NP674774.RAE3zp-K_DIZHqnQ25W2CunIgituxKWBzXEVD9tTf74gc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP674774.RAE3zp-K_DIZHqnQ25W2CunIgituxKWBzXEVD9tTf74gc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP674774.RAE3zp-K_DIZHqnQ25W2CunIgituxKWBzXEVD9tTf74gc130_provenance.
- NP674774.RAE3zp-K_DIZHqnQ25W2CunIgituxKWBzXEVD9tTf74gc130_assertion description "[Within nine dentin dysplasia (DD) (type II) and dentinogenesis imperfecta (type II and III) patient/families, seven have 1 of 4 net -1 deletions within the approximately 2-kb coding repeat domain of the DSPP gene while the remaining two patients have splice-site mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP674774.RAE3zp-K_DIZHqnQ25W2CunIgituxKWBzXEVD9tTf74gc130_provenance.
- NP674774.RAE3zp-K_DIZHqnQ25W2CunIgituxKWBzXEVD9tTf74gc130_assertion evidence source_evidence_literature NP674774.RAE3zp-K_DIZHqnQ25W2CunIgituxKWBzXEVD9tTf74gc130_provenance.
- NP674774.RAE3zp-K_DIZHqnQ25W2CunIgituxKWBzXEVD9tTf74gc130_assertion SIO_000772 18521831 NP674774.RAE3zp-K_DIZHqnQ25W2CunIgituxKWBzXEVD9tTf74gc130_provenance.
- NP674774.RAE3zp-K_DIZHqnQ25W2CunIgituxKWBzXEVD9tTf74gc130_assertion wasDerivedFrom befree-2016 NP674774.RAE3zp-K_DIZHqnQ25W2CunIgituxKWBzXEVD9tTf74gc130_provenance.
- NP674774.RAE3zp-K_DIZHqnQ25W2CunIgituxKWBzXEVD9tTf74gc130_assertion wasGeneratedBy ECO_0000203 NP674774.RAE3zp-K_DIZHqnQ25W2CunIgituxKWBzXEVD9tTf74gc130_provenance.
- befree-2016 importedOn "2016-02-19" NP674774.RAE3zp-K_DIZHqnQ25W2CunIgituxKWBzXEVD9tTf74gc130_provenance.