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- source_evidence_literature type ECO_0000212 NP528889.RAZrHQYSWcNJXsnZJ_k_MRWhKuFHYkYE-GN7FFGB6q3EA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP528889.RAZrHQYSWcNJXsnZJ_k_MRWhKuFHYkYE-GN7FFGB6q3EA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP528889.RAZrHQYSWcNJXsnZJ_k_MRWhKuFHYkYE-GN7FFGB6q3EA130_provenance.
- NP528889.RAZrHQYSWcNJXsnZJ_k_MRWhKuFHYkYE-GN7FFGB6q3EA130_assertion description "[The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 patients with autosomal dominant RP (adRP), 55 patients with autosomal recessive RP (arRP), 7 patients with isolated RP, 17 patients with macular degeneration (MD), and 24 patients with Leber congenital amaurosis (LCA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP528889.RAZrHQYSWcNJXsnZJ_k_MRWhKuFHYkYE-GN7FFGB6q3EA130_provenance.
- NP528889.RAZrHQYSWcNJXsnZJ_k_MRWhKuFHYkYE-GN7FFGB6q3EA130_assertion evidence source_evidence_literature NP528889.RAZrHQYSWcNJXsnZJ_k_MRWhKuFHYkYE-GN7FFGB6q3EA130_provenance.
- NP528889.RAZrHQYSWcNJXsnZJ_k_MRWhKuFHYkYE-GN7FFGB6q3EA130_assertion SIO_000772 16384941 NP528889.RAZrHQYSWcNJXsnZJ_k_MRWhKuFHYkYE-GN7FFGB6q3EA130_provenance.
- NP528889.RAZrHQYSWcNJXsnZJ_k_MRWhKuFHYkYE-GN7FFGB6q3EA130_assertion wasDerivedFrom befree-2016 NP528889.RAZrHQYSWcNJXsnZJ_k_MRWhKuFHYkYE-GN7FFGB6q3EA130_provenance.
- NP528889.RAZrHQYSWcNJXsnZJ_k_MRWhKuFHYkYE-GN7FFGB6q3EA130_assertion wasGeneratedBy ECO_0000203 NP528889.RAZrHQYSWcNJXsnZJ_k_MRWhKuFHYkYE-GN7FFGB6q3EA130_provenance.
- befree-2016 importedOn "2016-02-19" NP528889.RAZrHQYSWcNJXsnZJ_k_MRWhKuFHYkYE-GN7FFGB6q3EA130_provenance.