Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP945390.RA5lAnMe_I5cRxUZmMV6bWtfiUDy5qeP5r8USYk1tnBP0130_assertion> ?p ?o ?g. }
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- NP945390.RA5lAnMe_I5cRxUZmMV6bWtfiUDy5qeP5r8USYk1tnBP0130_assertion type Assertion NP945390.RA5lAnMe_I5cRxUZmMV6bWtfiUDy5qeP5r8USYk1tnBP0130_head.
- NP945390.RA5lAnMe_I5cRxUZmMV6bWtfiUDy5qeP5r8USYk1tnBP0130_assertion description "[Biallelic mutations in PALB2 cause FA (Fanconi's anaemia) subtype FA-N, a devastating inherited disorder marked by developmental abnormalities, bone marrow failure and childhood cancer susceptibility, whereas monoallelic mutations predispose to breast, ovarian and pancreatic cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP945390.RA5lAnMe_I5cRxUZmMV6bWtfiUDy5qeP5r8USYk1tnBP0130_provenance.
- NP945390.RA5lAnMe_I5cRxUZmMV6bWtfiUDy5qeP5r8USYk1tnBP0130_assertion evidence source_evidence_literature NP945390.RA5lAnMe_I5cRxUZmMV6bWtfiUDy5qeP5r8USYk1tnBP0130_provenance.
- NP945390.RA5lAnMe_I5cRxUZmMV6bWtfiUDy5qeP5r8USYk1tnBP0130_assertion SIO_000772 24870022 NP945390.RA5lAnMe_I5cRxUZmMV6bWtfiUDy5qeP5r8USYk1tnBP0130_provenance.
- NP945390.RA5lAnMe_I5cRxUZmMV6bWtfiUDy5qeP5r8USYk1tnBP0130_assertion wasDerivedFrom befree-20150227 NP945390.RA5lAnMe_I5cRxUZmMV6bWtfiUDy5qeP5r8USYk1tnBP0130_provenance.
- NP945390.RA5lAnMe_I5cRxUZmMV6bWtfiUDy5qeP5r8USYk1tnBP0130_assertion wasGeneratedBy ECO_0000203 NP945390.RA5lAnMe_I5cRxUZmMV6bWtfiUDy5qeP5r8USYk1tnBP0130_provenance.