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- source_evidence_literature type ECO_0000212 NP654638.RAVGJQ6rAAAWr-BR-RBN3jSnfDlgkO8aRzXlo7T7-dpe4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP654638.RAVGJQ6rAAAWr-BR-RBN3jSnfDlgkO8aRzXlo7T7-dpe4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP654638.RAVGJQ6rAAAWr-BR-RBN3jSnfDlgkO8aRzXlo7T7-dpe4130_provenance.
- NP654638.RAVGJQ6rAAAWr-BR-RBN3jSnfDlgkO8aRzXlo7T7-dpe4130_assertion description "[In contrast to the infantile spinal muscular atrophy type 1 (SMA1; Werdnig-Hoffmann disease) with weakness predominantly of proximal muscles and bell-shaped thorax deformities due to intercostal muscle atrophy, infants with distal spinal muscular atrophy 1 usually present with distal muscle weakness, foot deformities, and sudden respiratory failure due to diaphragmatic paralysis that often requires urgent intubation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP654638.RAVGJQ6rAAAWr-BR-RBN3jSnfDlgkO8aRzXlo7T7-dpe4130_provenance.
- NP654638.RAVGJQ6rAAAWr-BR-RBN3jSnfDlgkO8aRzXlo7T7-dpe4130_assertion evidence source_evidence_literature NP654638.RAVGJQ6rAAAWr-BR-RBN3jSnfDlgkO8aRzXlo7T7-dpe4130_provenance.
- NP654638.RAVGJQ6rAAAWr-BR-RBN3jSnfDlgkO8aRzXlo7T7-dpe4130_assertion SIO_000772 18263757 NP654638.RAVGJQ6rAAAWr-BR-RBN3jSnfDlgkO8aRzXlo7T7-dpe4130_provenance.
- NP654638.RAVGJQ6rAAAWr-BR-RBN3jSnfDlgkO8aRzXlo7T7-dpe4130_assertion wasDerivedFrom befree-2016 NP654638.RAVGJQ6rAAAWr-BR-RBN3jSnfDlgkO8aRzXlo7T7-dpe4130_provenance.
- NP654638.RAVGJQ6rAAAWr-BR-RBN3jSnfDlgkO8aRzXlo7T7-dpe4130_assertion wasGeneratedBy ECO_0000203 NP654638.RAVGJQ6rAAAWr-BR-RBN3jSnfDlgkO8aRzXlo7T7-dpe4130_provenance.
- befree-2016 importedOn "2016-02-19" NP654638.RAVGJQ6rAAAWr-BR-RBN3jSnfDlgkO8aRzXlo7T7-dpe4130_provenance.