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- source_evidence_literature type ECO_0000212 NP585131.RA0npxCnzq_K8cF1ueccrlDcDWMyki9U0z8N89B-3en7g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP585131.RA0npxCnzq_K8cF1ueccrlDcDWMyki9U0z8N89B-3en7g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP585131.RA0npxCnzq_K8cF1ueccrlDcDWMyki9U0z8N89B-3en7g130_provenance.
- NP585131.RA0npxCnzq_K8cF1ueccrlDcDWMyki9U0z8N89B-3en7g130_assertion description "[Here, we describe for the first time a severe form of NBS without chromosomal instability in monozygotic twin brothers with profound congenital microcephaly and developmental delay who are compound heterozygotes for the 657del5 and 643C>T(R215W) NBS1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP585131.RA0npxCnzq_K8cF1ueccrlDcDWMyki9U0z8N89B-3en7g130_provenance.
- NP585131.RA0npxCnzq_K8cF1ueccrlDcDWMyki9U0z8N89B-3en7g130_assertion evidence source_evidence_literature NP585131.RA0npxCnzq_K8cF1ueccrlDcDWMyki9U0z8N89B-3en7g130_provenance.
- NP585131.RA0npxCnzq_K8cF1ueccrlDcDWMyki9U0z8N89B-3en7g130_assertion SIO_000772 16033915 NP585131.RA0npxCnzq_K8cF1ueccrlDcDWMyki9U0z8N89B-3en7g130_provenance.
- NP585131.RA0npxCnzq_K8cF1ueccrlDcDWMyki9U0z8N89B-3en7g130_assertion wasDerivedFrom befree-20150227 NP585131.RA0npxCnzq_K8cF1ueccrlDcDWMyki9U0z8N89B-3en7g130_provenance.
- NP585131.RA0npxCnzq_K8cF1ueccrlDcDWMyki9U0z8N89B-3en7g130_assertion wasGeneratedBy ECO_0000203 NP585131.RA0npxCnzq_K8cF1ueccrlDcDWMyki9U0z8N89B-3en7g130_provenance.
- befree-20150227 importedOn "2015-02-27" NP585131.RA0npxCnzq_K8cF1ueccrlDcDWMyki9U0z8N89B-3en7g130_provenance.