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- source_evidence_literature type ECO_0000212 NP378565.RAEIlwfPG8Idtw538n2gyC5STvXwGtYUzOmPQ22KeP9Qc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP378565.RAEIlwfPG8Idtw538n2gyC5STvXwGtYUzOmPQ22KeP9Qc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP378565.RAEIlwfPG8Idtw538n2gyC5STvXwGtYUzOmPQ22KeP9Qc130_provenance.
- NP378565.RAEIlwfPG8Idtw538n2gyC5STvXwGtYUzOmPQ22KeP9Qc130_assertion description "[Altogether 226 different JAG1 mutations have been described in association with AGS, including our novel 36 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP378565.RAEIlwfPG8Idtw538n2gyC5STvXwGtYUzOmPQ22KeP9Qc130_provenance.
- NP378565.RAEIlwfPG8Idtw538n2gyC5STvXwGtYUzOmPQ22KeP9Qc130_assertion evidence source_evidence_literature NP378565.RAEIlwfPG8Idtw538n2gyC5STvXwGtYUzOmPQ22KeP9Qc130_provenance.
- NP378565.RAEIlwfPG8Idtw538n2gyC5STvXwGtYUzOmPQ22KeP9Qc130_assertion SIO_000772 12497640 NP378565.RAEIlwfPG8Idtw538n2gyC5STvXwGtYUzOmPQ22KeP9Qc130_provenance.
- NP378565.RAEIlwfPG8Idtw538n2gyC5STvXwGtYUzOmPQ22KeP9Qc130_assertion wasDerivedFrom befree-2016 NP378565.RAEIlwfPG8Idtw538n2gyC5STvXwGtYUzOmPQ22KeP9Qc130_provenance.
- NP378565.RAEIlwfPG8Idtw538n2gyC5STvXwGtYUzOmPQ22KeP9Qc130_assertion wasGeneratedBy ECO_0000203 NP378565.RAEIlwfPG8Idtw538n2gyC5STvXwGtYUzOmPQ22KeP9Qc130_provenance.
- befree-2016 importedOn "2016-02-19" NP378565.RAEIlwfPG8Idtw538n2gyC5STvXwGtYUzOmPQ22KeP9Qc130_provenance.