Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP449879.RAZ2HpJwK3TZ6jY6fNOQVbebOmvW97TbakVP53AVSmNq0130_assertion> ?p ?o ?g. }
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- NP449879.RAZ2HpJwK3TZ6jY6fNOQVbebOmvW97TbakVP53AVSmNq0130_assertion type Assertion NP449879.RAZ2HpJwK3TZ6jY6fNOQVbebOmvW97TbakVP53AVSmNq0130_head.
- NP449879.RAZ2HpJwK3TZ6jY6fNOQVbebOmvW97TbakVP53AVSmNq0130_assertion description "[The discovery that Jak3 mutations are a significant cause of severe combined immunodeficiency (SCID), a rare inherited defect characterized by lymphopenia, has provided valuable insights into the functions of Jak3 in lymphoid development and function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP449879.RAZ2HpJwK3TZ6jY6fNOQVbebOmvW97TbakVP53AVSmNq0130_provenance.
- NP449879.RAZ2HpJwK3TZ6jY6fNOQVbebOmvW97TbakVP53AVSmNq0130_assertion evidence source_evidence_literature NP449879.RAZ2HpJwK3TZ6jY6fNOQVbebOmvW97TbakVP53AVSmNq0130_provenance.
- NP449879.RAZ2HpJwK3TZ6jY6fNOQVbebOmvW97TbakVP53AVSmNq0130_assertion SIO_000772 15220007 NP449879.RAZ2HpJwK3TZ6jY6fNOQVbebOmvW97TbakVP53AVSmNq0130_provenance.
- NP449879.RAZ2HpJwK3TZ6jY6fNOQVbebOmvW97TbakVP53AVSmNq0130_assertion wasDerivedFrom befree-2016 NP449879.RAZ2HpJwK3TZ6jY6fNOQVbebOmvW97TbakVP53AVSmNq0130_provenance.
- NP449879.RAZ2HpJwK3TZ6jY6fNOQVbebOmvW97TbakVP53AVSmNq0130_assertion wasGeneratedBy ECO_0000203 NP449879.RAZ2HpJwK3TZ6jY6fNOQVbebOmvW97TbakVP53AVSmNq0130_provenance.