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- source_evidence_literature type ECO_0000212 NP275517.RAkZZ5YtK1baDWFNzll_-bb_uAtTRGM80XKjs2CGJZE_c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP275517.RAkZZ5YtK1baDWFNzll_-bb_uAtTRGM80XKjs2CGJZE_c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP275517.RAkZZ5YtK1baDWFNzll_-bb_uAtTRGM80XKjs2CGJZE_c130_provenance.
- NP275517.RAkZZ5YtK1baDWFNzll_-bb_uAtTRGM80XKjs2CGJZE_c130_assertion description "[PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP275517.RAkZZ5YtK1baDWFNzll_-bb_uAtTRGM80XKjs2CGJZE_c130_provenance.
- NP275517.RAkZZ5YtK1baDWFNzll_-bb_uAtTRGM80XKjs2CGJZE_c130_assertion evidence source_evidence_literature NP275517.RAkZZ5YtK1baDWFNzll_-bb_uAtTRGM80XKjs2CGJZE_c130_provenance.
- NP275517.RAkZZ5YtK1baDWFNzll_-bb_uAtTRGM80XKjs2CGJZE_c130_assertion SIO_000772 10679952 NP275517.RAkZZ5YtK1baDWFNzll_-bb_uAtTRGM80XKjs2CGJZE_c130_provenance.
- NP275517.RAkZZ5YtK1baDWFNzll_-bb_uAtTRGM80XKjs2CGJZE_c130_assertion wasDerivedFrom befree-2016 NP275517.RAkZZ5YtK1baDWFNzll_-bb_uAtTRGM80XKjs2CGJZE_c130_provenance.
- NP275517.RAkZZ5YtK1baDWFNzll_-bb_uAtTRGM80XKjs2CGJZE_c130_assertion wasGeneratedBy ECO_0000203 NP275517.RAkZZ5YtK1baDWFNzll_-bb_uAtTRGM80XKjs2CGJZE_c130_provenance.
- befree-2016 importedOn "2016-02-19" NP275517.RAkZZ5YtK1baDWFNzll_-bb_uAtTRGM80XKjs2CGJZE_c130_provenance.