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- source_evidence_literature type ECO_0000212 NP793990.RAtZ83h5UhHp1S9_0I4O_BM8Nhq-kCj6YCxrNCMGqT4Yc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP793990.RAtZ83h5UhHp1S9_0I4O_BM8Nhq-kCj6YCxrNCMGqT4Yc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP793990.RAtZ83h5UhHp1S9_0I4O_BM8Nhq-kCj6YCxrNCMGqT4Yc130_provenance.
- NP793990.RAtZ83h5UhHp1S9_0I4O_BM8Nhq-kCj6YCxrNCMGqT4Yc130_assertion description "[Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP793990.RAtZ83h5UhHp1S9_0I4O_BM8Nhq-kCj6YCxrNCMGqT4Yc130_provenance.
- NP793990.RAtZ83h5UhHp1S9_0I4O_BM8Nhq-kCj6YCxrNCMGqT4Yc130_assertion evidence source_evidence_literature NP793990.RAtZ83h5UhHp1S9_0I4O_BM8Nhq-kCj6YCxrNCMGqT4Yc130_provenance.
- NP793990.RAtZ83h5UhHp1S9_0I4O_BM8Nhq-kCj6YCxrNCMGqT4Yc130_assertion SIO_000772 24938146 NP793990.RAtZ83h5UhHp1S9_0I4O_BM8Nhq-kCj6YCxrNCMGqT4Yc130_provenance.
- NP793990.RAtZ83h5UhHp1S9_0I4O_BM8Nhq-kCj6YCxrNCMGqT4Yc130_assertion wasDerivedFrom befree-20150227 NP793990.RAtZ83h5UhHp1S9_0I4O_BM8Nhq-kCj6YCxrNCMGqT4Yc130_provenance.
- NP793990.RAtZ83h5UhHp1S9_0I4O_BM8Nhq-kCj6YCxrNCMGqT4Yc130_assertion wasGeneratedBy ECO_0000203 NP793990.RAtZ83h5UhHp1S9_0I4O_BM8Nhq-kCj6YCxrNCMGqT4Yc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP793990.RAtZ83h5UhHp1S9_0I4O_BM8Nhq-kCj6YCxrNCMGqT4Yc130_provenance.