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- source_evidence_literature type ECO_0000212 NP607268.RAUZqEcw8tzV1e45j1sDRELMXxe-VT88ELIiXie5MyQJE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP607268.RAUZqEcw8tzV1e45j1sDRELMXxe-VT88ELIiXie5MyQJE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP607268.RAUZqEcw8tzV1e45j1sDRELMXxe-VT88ELIiXie5MyQJE130_provenance.
- NP607268.RAUZqEcw8tzV1e45j1sDRELMXxe-VT88ELIiXie5MyQJE130_assertion description "[Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP607268.RAUZqEcw8tzV1e45j1sDRELMXxe-VT88ELIiXie5MyQJE130_provenance.
- NP607268.RAUZqEcw8tzV1e45j1sDRELMXxe-VT88ELIiXie5MyQJE130_assertion evidence source_evidence_literature NP607268.RAUZqEcw8tzV1e45j1sDRELMXxe-VT88ELIiXie5MyQJE130_provenance.
- NP607268.RAUZqEcw8tzV1e45j1sDRELMXxe-VT88ELIiXie5MyQJE130_assertion SIO_000772 17468187 NP607268.RAUZqEcw8tzV1e45j1sDRELMXxe-VT88ELIiXie5MyQJE130_provenance.
- NP607268.RAUZqEcw8tzV1e45j1sDRELMXxe-VT88ELIiXie5MyQJE130_assertion wasDerivedFrom befree-2016 NP607268.RAUZqEcw8tzV1e45j1sDRELMXxe-VT88ELIiXie5MyQJE130_provenance.
- NP607268.RAUZqEcw8tzV1e45j1sDRELMXxe-VT88ELIiXie5MyQJE130_assertion wasGeneratedBy ECO_0000203 NP607268.RAUZqEcw8tzV1e45j1sDRELMXxe-VT88ELIiXie5MyQJE130_provenance.
- befree-2016 importedOn "2016-02-19" NP607268.RAUZqEcw8tzV1e45j1sDRELMXxe-VT88ELIiXie5MyQJE130_provenance.