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- source_evidence_literature type ECO_0000212 NP559412.RAfTqb-ke0SutJuIqUrU1_peMNNwgnnTL4sX2RX99LaHo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP559412.RAfTqb-ke0SutJuIqUrU1_peMNNwgnnTL4sX2RX99LaHo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP559412.RAfTqb-ke0SutJuIqUrU1_peMNNwgnnTL4sX2RX99LaHo130_provenance.
- NP559412.RAfTqb-ke0SutJuIqUrU1_peMNNwgnnTL4sX2RX99LaHo130_assertion description "[Six patients (25%) with more than 20 liver cysts had mutations (4 PRKCSH and 2 SEC63), of which five mutations were chain-terminating.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP559412.RAfTqb-ke0SutJuIqUrU1_peMNNwgnnTL4sX2RX99LaHo130_provenance.
- NP559412.RAfTqb-ke0SutJuIqUrU1_peMNNwgnnTL4sX2RX99LaHo130_assertion evidence source_evidence_literature NP559412.RAfTqb-ke0SutJuIqUrU1_peMNNwgnnTL4sX2RX99LaHo130_provenance.
- NP559412.RAfTqb-ke0SutJuIqUrU1_peMNNwgnnTL4sX2RX99LaHo130_assertion SIO_000772 16835903 NP559412.RAfTqb-ke0SutJuIqUrU1_peMNNwgnnTL4sX2RX99LaHo130_provenance.
- NP559412.RAfTqb-ke0SutJuIqUrU1_peMNNwgnnTL4sX2RX99LaHo130_assertion wasDerivedFrom befree-2016 NP559412.RAfTqb-ke0SutJuIqUrU1_peMNNwgnnTL4sX2RX99LaHo130_provenance.
- NP559412.RAfTqb-ke0SutJuIqUrU1_peMNNwgnnTL4sX2RX99LaHo130_assertion wasGeneratedBy ECO_0000203 NP559412.RAfTqb-ke0SutJuIqUrU1_peMNNwgnnTL4sX2RX99LaHo130_provenance.
- befree-2016 importedOn "2016-02-19" NP559412.RAfTqb-ke0SutJuIqUrU1_peMNNwgnnTL4sX2RX99LaHo130_provenance.