Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1093509.RADiRpJWjxI_Wu0pb9_Hr1ADEB0MYZqp9rd6TaX5VyW9I130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1093509.RADiRpJWjxI_Wu0pb9_Hr1ADEB0MYZqp9rd6TaX5VyW9I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1093509.RADiRpJWjxI_Wu0pb9_Hr1ADEB0MYZqp9rd6TaX5VyW9I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1093509.RADiRpJWjxI_Wu0pb9_Hr1ADEB0MYZqp9rd6TaX5VyW9I130_provenance.
- befree-2016 importedOn "2016-02-19" NP1093509.RADiRpJWjxI_Wu0pb9_Hr1ADEB0MYZqp9rd6TaX5VyW9I130_provenance.
- NP1093509.RADiRpJWjxI_Wu0pb9_Hr1ADEB0MYZqp9rd6TaX5VyW9I130_assertion wasGeneratedBy ECO_0000203 NP1093509.RADiRpJWjxI_Wu0pb9_Hr1ADEB0MYZqp9rd6TaX5VyW9I130_provenance.
- NP1093509.RADiRpJWjxI_Wu0pb9_Hr1ADEB0MYZqp9rd6TaX5VyW9I130_assertion wasDerivedFrom befree-2016 NP1093509.RADiRpJWjxI_Wu0pb9_Hr1ADEB0MYZqp9rd6TaX5VyW9I130_provenance.
- NP1093509.RADiRpJWjxI_Wu0pb9_Hr1ADEB0MYZqp9rd6TaX5VyW9I130_assertion SIO_000772 23850728 NP1093509.RADiRpJWjxI_Wu0pb9_Hr1ADEB0MYZqp9rd6TaX5VyW9I130_provenance.
- NP1093509.RADiRpJWjxI_Wu0pb9_Hr1ADEB0MYZqp9rd6TaX5VyW9I130_assertion evidence source_evidence_literature NP1093509.RADiRpJWjxI_Wu0pb9_Hr1ADEB0MYZqp9rd6TaX5VyW9I130_provenance.
- NP1093509.RADiRpJWjxI_Wu0pb9_Hr1ADEB0MYZqp9rd6TaX5VyW9I130_assertion description "[Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1093509.RADiRpJWjxI_Wu0pb9_Hr1ADEB0MYZqp9rd6TaX5VyW9I130_provenance.