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- source_evidence_literature type ECO_0000212 NP580545.RADYjQ-5AvblnAXJFfkLz2A4im8qfQ1z4tFGTFuAB5gFg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP580545.RADYjQ-5AvblnAXJFfkLz2A4im8qfQ1z4tFGTFuAB5gFg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP580545.RADYjQ-5AvblnAXJFfkLz2A4im8qfQ1z4tFGTFuAB5gFg130_provenance.
- NP580545.RADYjQ-5AvblnAXJFfkLz2A4im8qfQ1z4tFGTFuAB5gFg130_assertion description "[In 166 patients (25.9%) the disease was familial and caused by germline mutations in VHL (56), SDHB (34), SDHD (31), RET (31) or NF1 (14), causing von Hippel-Lindau disease, SDHB- or SDHD-PH/FPGL syndromes, multiple endocrine neoplasia type 2 (MEN 2) and type 1 neurofibromatosis (NF1), respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP580545.RADYjQ-5AvblnAXJFfkLz2A4im8qfQ1z4tFGTFuAB5gFg130_provenance.
- NP580545.RADYjQ-5AvblnAXJFfkLz2A4im8qfQ1z4tFGTFuAB5gFg130_assertion evidence source_evidence_literature NP580545.RADYjQ-5AvblnAXJFfkLz2A4im8qfQ1z4tFGTFuAB5gFg130_provenance.
- NP580545.RADYjQ-5AvblnAXJFfkLz2A4im8qfQ1z4tFGTFuAB5gFg130_assertion SIO_000772 17121518 NP580545.RADYjQ-5AvblnAXJFfkLz2A4im8qfQ1z4tFGTFuAB5gFg130_provenance.
- NP580545.RADYjQ-5AvblnAXJFfkLz2A4im8qfQ1z4tFGTFuAB5gFg130_assertion wasDerivedFrom befree-2016 NP580545.RADYjQ-5AvblnAXJFfkLz2A4im8qfQ1z4tFGTFuAB5gFg130_provenance.
- NP580545.RADYjQ-5AvblnAXJFfkLz2A4im8qfQ1z4tFGTFuAB5gFg130_assertion wasGeneratedBy ECO_0000203 NP580545.RADYjQ-5AvblnAXJFfkLz2A4im8qfQ1z4tFGTFuAB5gFg130_provenance.
- befree-2016 importedOn "2016-02-19" NP580545.RADYjQ-5AvblnAXJFfkLz2A4im8qfQ1z4tFGTFuAB5gFg130_provenance.