Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_assertion type Assertion NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_head.
- NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_assertion description "[Germline loss-of-function (LOF) JAK3 and MPL mutations cause severe combined immunodeficiency and congenital amegakaryocytic thrombocytopenia, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_provenance.
- NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_assertion evidence source_evidence_literature NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_provenance.
- NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_assertion SIO_000772 18297515 NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_provenance.
- NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_assertion wasDerivedFrom befree-2016 NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_provenance.
- NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_assertion wasGeneratedBy ECO_0000203 NP657199.RAIfyR6svGhO3IVBJmOvptPDUVo9WyR5tDhft_HG4puYo130_provenance.