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- source_evidence_literature type ECO_0000212 NP419348.RATg4TxmIFuBpEDm74JnowwlYaXeM23kGq5disJcJ-2SQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP419348.RATg4TxmIFuBpEDm74JnowwlYaXeM23kGq5disJcJ-2SQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP419348.RATg4TxmIFuBpEDm74JnowwlYaXeM23kGq5disJcJ-2SQ130_provenance.
- NP419348.RATg4TxmIFuBpEDm74JnowwlYaXeM23kGq5disJcJ-2SQ130_assertion description "[A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP419348.RATg4TxmIFuBpEDm74JnowwlYaXeM23kGq5disJcJ-2SQ130_provenance.
- NP419348.RATg4TxmIFuBpEDm74JnowwlYaXeM23kGq5disJcJ-2SQ130_assertion evidence source_evidence_literature NP419348.RATg4TxmIFuBpEDm74JnowwlYaXeM23kGq5disJcJ-2SQ130_provenance.
- NP419348.RATg4TxmIFuBpEDm74JnowwlYaXeM23kGq5disJcJ-2SQ130_assertion SIO_000772 1460047 NP419348.RATg4TxmIFuBpEDm74JnowwlYaXeM23kGq5disJcJ-2SQ130_provenance.
- NP419348.RATg4TxmIFuBpEDm74JnowwlYaXeM23kGq5disJcJ-2SQ130_assertion wasDerivedFrom befree-2016 NP419348.RATg4TxmIFuBpEDm74JnowwlYaXeM23kGq5disJcJ-2SQ130_provenance.
- NP419348.RATg4TxmIFuBpEDm74JnowwlYaXeM23kGq5disJcJ-2SQ130_assertion wasGeneratedBy ECO_0000203 NP419348.RATg4TxmIFuBpEDm74JnowwlYaXeM23kGq5disJcJ-2SQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP419348.RATg4TxmIFuBpEDm74JnowwlYaXeM23kGq5disJcJ-2SQ130_provenance.