Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1290223.RAjbBA0UYGOWMqD4hKeKI0ppVxkJzWCVxOl58hCd23B1g130_assertion> ?p ?o ?g. }
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- NP1290223.RAjbBA0UYGOWMqD4hKeKI0ppVxkJzWCVxOl58hCd23B1g130_assertion type Assertion NP1290223.RAjbBA0UYGOWMqD4hKeKI0ppVxkJzWCVxOl58hCd23B1g130_head.
- NP1290223.RAjbBA0UYGOWMqD4hKeKI0ppVxkJzWCVxOl58hCd23B1g130_assertion description "[Among 73 children with severe obesity (BMI SDS?>?3.0), we identified 22 probands and 5 relatives, carrying 10 different loss-of-function homozygous mutations in LEP, leptin receptor (LEPR), and MC4R genes, including 4 novel variants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1290223.RAjbBA0UYGOWMqD4hKeKI0ppVxkJzWCVxOl58hCd23B1g130_provenance.
- NP1290223.RAjbBA0UYGOWMqD4hKeKI0ppVxkJzWCVxOl58hCd23B1g130_assertion evidence source_evidence_literature NP1290223.RAjbBA0UYGOWMqD4hKeKI0ppVxkJzWCVxOl58hCd23B1g130_provenance.
- NP1290223.RAjbBA0UYGOWMqD4hKeKI0ppVxkJzWCVxOl58hCd23B1g130_assertion SIO_000772 26179253 NP1290223.RAjbBA0UYGOWMqD4hKeKI0ppVxkJzWCVxOl58hCd23B1g130_provenance.
- NP1290223.RAjbBA0UYGOWMqD4hKeKI0ppVxkJzWCVxOl58hCd23B1g130_assertion wasDerivedFrom befree-2016 NP1290223.RAjbBA0UYGOWMqD4hKeKI0ppVxkJzWCVxOl58hCd23B1g130_provenance.
- NP1290223.RAjbBA0UYGOWMqD4hKeKI0ppVxkJzWCVxOl58hCd23B1g130_assertion wasGeneratedBy ECO_0000203 NP1290223.RAjbBA0UYGOWMqD4hKeKI0ppVxkJzWCVxOl58hCd23B1g130_provenance.