Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP799192.RAiXnWuEFvZrTRGbJFtrHmffpP80vQUGmi-YhNvtCQxEI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP799192.RAiXnWuEFvZrTRGbJFtrHmffpP80vQUGmi-YhNvtCQxEI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP799192.RAiXnWuEFvZrTRGbJFtrHmffpP80vQUGmi-YhNvtCQxEI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP799192.RAiXnWuEFvZrTRGbJFtrHmffpP80vQUGmi-YhNvtCQxEI130_provenance.
- befree-2016 importedOn "2016-02-19" NP799192.RAiXnWuEFvZrTRGbJFtrHmffpP80vQUGmi-YhNvtCQxEI130_provenance.
- NP799192.RAiXnWuEFvZrTRGbJFtrHmffpP80vQUGmi-YhNvtCQxEI130_assertion wasGeneratedBy ECO_0000203 NP799192.RAiXnWuEFvZrTRGbJFtrHmffpP80vQUGmi-YhNvtCQxEI130_provenance.
- NP799192.RAiXnWuEFvZrTRGbJFtrHmffpP80vQUGmi-YhNvtCQxEI130_assertion wasDerivedFrom befree-2016 NP799192.RAiXnWuEFvZrTRGbJFtrHmffpP80vQUGmi-YhNvtCQxEI130_provenance.
- NP799192.RAiXnWuEFvZrTRGbJFtrHmffpP80vQUGmi-YhNvtCQxEI130_assertion SIO_000772 20220177 NP799192.RAiXnWuEFvZrTRGbJFtrHmffpP80vQUGmi-YhNvtCQxEI130_provenance.
- NP799192.RAiXnWuEFvZrTRGbJFtrHmffpP80vQUGmi-YhNvtCQxEI130_assertion evidence source_evidence_literature NP799192.RAiXnWuEFvZrTRGbJFtrHmffpP80vQUGmi-YhNvtCQxEI130_provenance.
- NP799192.RAiXnWuEFvZrTRGbJFtrHmffpP80vQUGmi-YhNvtCQxEI130_assertion description "[We identified and validated compound, heterozygous, causative alleles in SH3TC2 (the SH3 domain and tetratricopeptide repeats 2 gene), involving two mutations, in the proband and in family members affected by Charcot-Marie-Tooth disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP799192.RAiXnWuEFvZrTRGbJFtrHmffpP80vQUGmi-YhNvtCQxEI130_provenance.