Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP685.RAQBm8hDioQJbQfHc7T2kv5NYPv6MTWYCOwpAIbrLn7L0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP685.RAQBm8hDioQJbQfHc7T2kv5NYPv6MTWYCOwpAIbrLn7L0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP685.RAQBm8hDioQJbQfHc7T2kv5NYPv6MTWYCOwpAIbrLn7L0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP685.RAQBm8hDioQJbQfHc7T2kv5NYPv6MTWYCOwpAIbrLn7L0130_provenance.
- NP685.RAQBm8hDioQJbQfHc7T2kv5NYPv6MTWYCOwpAIbrLn7L0130_assertion description "[Haplotype analysis for the markers D13S115, D13S232, D13S292, D13S787, D13S1243 and D13S283 internal to and flanking the gamma-sarcoglycan gene showed the affected sisters shared haplotypes, indicating it was possible they were suffering from a gamma-sarcoglycanopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP685.RAQBm8hDioQJbQfHc7T2kv5NYPv6MTWYCOwpAIbrLn7L0130_provenance.
- NP685.RAQBm8hDioQJbQfHc7T2kv5NYPv6MTWYCOwpAIbrLn7L0130_assertion evidence source_evidence_curated NP685.RAQBm8hDioQJbQfHc7T2kv5NYPv6MTWYCOwpAIbrLn7L0130_provenance.
- NP685.RAQBm8hDioQJbQfHc7T2kv5NYPv6MTWYCOwpAIbrLn7L0130_assertion SIO_000772 10714584 NP685.RAQBm8hDioQJbQfHc7T2kv5NYPv6MTWYCOwpAIbrLn7L0130_provenance.
- NP685.RAQBm8hDioQJbQfHc7T2kv5NYPv6MTWYCOwpAIbrLn7L0130_assertion wasDerivedFrom uniprot-2016 NP685.RAQBm8hDioQJbQfHc7T2kv5NYPv6MTWYCOwpAIbrLn7L0130_provenance.
- NP685.RAQBm8hDioQJbQfHc7T2kv5NYPv6MTWYCOwpAIbrLn7L0130_assertion wasGeneratedBy ECO_0000218 NP685.RAQBm8hDioQJbQfHc7T2kv5NYPv6MTWYCOwpAIbrLn7L0130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP685.RAQBm8hDioQJbQfHc7T2kv5NYPv6MTWYCOwpAIbrLn7L0130_provenance.