Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP512087.RA04vLb8buga4QpDGGjDE5uyGIc4LjGN77veu0o0MZbf4130_assertion> ?p ?o ?g. }
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- NP512087.RA04vLb8buga4QpDGGjDE5uyGIc4LjGN77veu0o0MZbf4130_assertion type Assertion NP512087.RA04vLb8buga4QpDGGjDE5uyGIc4LjGN77veu0o0MZbf4130_head.
- NP512087.RA04vLb8buga4QpDGGjDE5uyGIc4LjGN77veu0o0MZbf4130_assertion description "[We report a homozygous missense mutation at position 1092 (substitution of glutamine for arginine) in the tyrosine kinase domain of the insulin receptor in a patient with leprechaunism associated with severe insulin resistance and intrauterine growth retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP512087.RA04vLb8buga4QpDGGjDE5uyGIc4LjGN77veu0o0MZbf4130_provenance.
- NP512087.RA04vLb8buga4QpDGGjDE5uyGIc4LjGN77veu0o0MZbf4130_assertion evidence source_evidence_literature NP512087.RA04vLb8buga4QpDGGjDE5uyGIc4LjGN77veu0o0MZbf4130_provenance.
- NP512087.RA04vLb8buga4QpDGGjDE5uyGIc4LjGN77veu0o0MZbf4130_assertion SIO_000772 9112018 NP512087.RA04vLb8buga4QpDGGjDE5uyGIc4LjGN77veu0o0MZbf4130_provenance.
- NP512087.RA04vLb8buga4QpDGGjDE5uyGIc4LjGN77veu0o0MZbf4130_assertion wasDerivedFrom befree-20150227 NP512087.RA04vLb8buga4QpDGGjDE5uyGIc4LjGN77veu0o0MZbf4130_provenance.
- NP512087.RA04vLb8buga4QpDGGjDE5uyGIc4LjGN77veu0o0MZbf4130_assertion wasGeneratedBy ECO_0000203 NP512087.RA04vLb8buga4QpDGGjDE5uyGIc4LjGN77veu0o0MZbf4130_provenance.