Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1244861.RAHl2fa2VbZMELA7gNeAuK76GExW3kNvuhpXHs04yYidw130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1244861.RAHl2fa2VbZMELA7gNeAuK76GExW3kNvuhpXHs04yYidw130_assertion type Assertion NP1244861.RAHl2fa2VbZMELA7gNeAuK76GExW3kNvuhpXHs04yYidw130_head.
- NP1244861.RAHl2fa2VbZMELA7gNeAuK76GExW3kNvuhpXHs04yYidw130_assertion description "[We have identified a novel nonsense mutation in hormone sensitive lipase gene, which likely explains the lipodystrophy phenotype observed in these patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1244861.RAHl2fa2VbZMELA7gNeAuK76GExW3kNvuhpXHs04yYidw130_provenance.
- NP1244861.RAHl2fa2VbZMELA7gNeAuK76GExW3kNvuhpXHs04yYidw130_assertion evidence source_evidence_literature NP1244861.RAHl2fa2VbZMELA7gNeAuK76GExW3kNvuhpXHs04yYidw130_provenance.
- NP1244861.RAHl2fa2VbZMELA7gNeAuK76GExW3kNvuhpXHs04yYidw130_assertion SIO_000772 25475467 NP1244861.RAHl2fa2VbZMELA7gNeAuK76GExW3kNvuhpXHs04yYidw130_provenance.
- NP1244861.RAHl2fa2VbZMELA7gNeAuK76GExW3kNvuhpXHs04yYidw130_assertion wasDerivedFrom befree-2016 NP1244861.RAHl2fa2VbZMELA7gNeAuK76GExW3kNvuhpXHs04yYidw130_provenance.
- NP1244861.RAHl2fa2VbZMELA7gNeAuK76GExW3kNvuhpXHs04yYidw130_assertion wasGeneratedBy ECO_0000203 NP1244861.RAHl2fa2VbZMELA7gNeAuK76GExW3kNvuhpXHs04yYidw130_provenance.