Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_provenance.
- NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_assertion wasGeneratedBy ECO_0000203 NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_provenance.
- NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_assertion wasDerivedFrom befree-20150227 NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_provenance.
- NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_assertion SIO_000772 25146893 NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_provenance.
- NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_assertion evidence source_evidence_literature NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_provenance.
- NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_assertion description "[A new heterozygous nucleotide substitution was detected in the PAX8 DNA-binding motif (c.397C/T, R133W) in the proband, affected by congenital hypothyroidism with thyroid hypoplasia, in his older sister, displaying a subclinical hypothyroidism associated with thyroid hypoplasia and thyroid nodules, in his father, affected by hypothyroidism with thyroid hypoplasia and thyroid nodules, and his first cousin as well, who revealed only a subclinical hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP784255.RAEwfgkhwrpWs58ZP-9jjGsyrKMhbya5ub-oJn1G3Y4dQ130_provenance.